Oxford Handbook of General Practice (4 edn)
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Assessment of abdominal pain
Signs may be unclear in elderly patients, children, or those on steroids.
History
Consider:
Site of pain—see Figure 13.1
Onset: how long? How did it start? Change over time?
Character of pain: colicky pain comes and goes in waves—results from GI obstruction, renal/biliary colic, gastroenteritis, or IBS
Radiation
Associated symptoms, e.g. nausea, vomiting, diarrhoea
Timing/pattern, e.g. constant, colicky, relationship to food
Exacerbating/relieving factors—including previous treatments tried
Severity
Location of pain and organs likely to be involved
Examination
Temperature, pulse, BP, respiratory rate
Anaemia or jaundice?
Abdomen—site of pain (see Figure 13.1); guarding/rebound tenderness?
Rectal/vaginal examination as needed
Consider urine dipstick/finger prick blood glucose testing as needed
Management
Treat the cause (see Table 13.1).
Renal/urological Renal colic UTI Pyelonephritis Urinary retention/ hydronephrosis Henoch–Schönlein purpura Torsion of the testis Gynaecological Ectopic pregnancy Dysmenorrhoea Endometriosis Pelvic inflammatory disease Ovarian torsion Ovarian cyst—bleed/rupture Gynaecological malignancy | Gastrointestinal Surgical Perforated bowel Bowel obstruction Intussusception Strangulated hernia Volvulus Appendicitis Meckel’s diverticulum Gall bladder disease Pancreatitis GI malignancy Medical Gastritis Peptic ulcer Gastroenteritis Crohn’s/UC IBS Constipation Diverticular disease Liver disease | Other intra-abdominal Sickle cell crisis Ruptured spleen Leaking/ruptured AAA Mesenteric ischaemia Mesenteric adenitis Subphrenic abscess Metabolic DM—ketoacidosis Porphyria Addison’s disease Lead poisoning Other extra-abdominal Shingles/post-herpetic neuralgia Spinal arthritis Muscular pain MI CCF Pneumonia |
Renal/urological Renal colic UTI Pyelonephritis Urinary retention/ hydronephrosis Henoch–Schönlein purpura Torsion of the testis Gynaecological Ectopic pregnancy Dysmenorrhoea Endometriosis Pelvic inflammatory disease Ovarian torsion Ovarian cyst—bleed/rupture Gynaecological malignancy | Gastrointestinal Surgical Perforated bowel Bowel obstruction Intussusception Strangulated hernia Volvulus Appendicitis Meckel’s diverticulum Gall bladder disease Pancreatitis GI malignancy Medical Gastritis Peptic ulcer Gastroenteritis Crohn’s/UC IBS Constipation Diverticular disease Liver disease | Other intra-abdominal Sickle cell crisis Ruptured spleen Leaking/ruptured AAA Mesenteric ischaemia Mesenteric adenitis Subphrenic abscess Metabolic DM—ketoacidosis Porphyria Addison’s disease Lead poisoning Other extra-abdominal Shingles/post-herpetic neuralgia Spinal arthritis Muscular pain MI CCF Pneumonia |
If acute or subacute onset of severe pain, admit as a surgical emergency to hospital.
Pelvic pain
p. 714
Anal/perianal pain
Treat the cause. Consider:
Anal fissure
Haemorrhoids/perianal haematoma (thrombosed pile)
Perianal abscess
Anal/perianal fistula
Pilonidal sinus
Skin infection (e.g. hidradenitis suppurativa)
Functional pain (proctalgia fugax)
Rectal/anal carcinoma
Tenesmus
Sensation of incomplete rectal emptying following defecation—as if something has been left behind which cannot be passed. Common in irritable bowel syndrome. Can be also be caused by proctitis/inflammatory bowel disease and tumour.
Abdominal migraine or periodic syndrome Seen in children. Presents as stereotyped attacks in which nausea, vomiting, and headache accompany abdominal pain. Treat as for migraine. Some of these children develop classical migraine later.
Vomiting and diarrhoea
Most episodes of acute vomiting and diarrhoea are due to viral infection, short-lived (2–5d), and self-limiting.
Nausea
Unpleasant symptom. The patient feels as if he/she might vomit. Most conditions which cause vomiting can also cause nausea.
Vomiting
Common symptom. Causes—see Table 13.2.
| Vomiting | Diarrhoea |
|---|---|
Physiological e.g. possetting in babies Travel/motion sickness GI infection, e.g. viral gastroenteritis, food poisoning Other infection (particularly children)—tonsillitis, otitis media Other GI causes: GI obstruction, pyloric stenosis, ‘acute abdomen’ CNS causes: raised intracranial pressure, head injury, migraine, vertigo Metabolic causes: pregnancy, uraemia, ketoacidosis Psychiatric causes: anorexia, bulimia Malignancy Drugs and toxins, e.g. alcohol, opioids, cytotoxic agents |
| Vomiting | Diarrhoea |
|---|---|
Physiological e.g. possetting in babies Travel/motion sickness GI infection, e.g. viral gastroenteritis, food poisoning Other infection (particularly children)—tonsillitis, otitis media Other GI causes: GI obstruction, pyloric stenosis, ‘acute abdomen’ CNS causes: raised intracranial pressure, head injury, migraine, vertigo Metabolic causes: pregnancy, uraemia, ketoacidosis Psychiatric causes: anorexia, bulimia Malignancy Drugs and toxins, e.g. alcohol, opioids, cytotoxic agents |
History
Duration
Ability to retain food and fluids/relationship to eating
Nature of vomitus, e.g. presence of blood or ‘coffee grounds’; bilious
Contact with anyone else with similar symptoms?
Other associated symptoms, e.g. fever, abdominal pain, diarrhoea
Other illnesses, e.g. DM, Ménière’s disease, migraine, cancer
Medication, e.g. opioids, chemotherapy
Examination
Assess hydration status—BP, pulse rate; dry mouth, ↓ skin turgor, sunken eyes, or sunken fontanelle (babies) are all late signs
Abdomen—masses, distension, tenderness, bowel sounds
For children—look for other sources of infection, e.g. ENT, chest, UTI
Haematemesis
p. 1076
Slimy stool
Caused by overproduction of mucus in the large bowel. Almost always associated with colonic disease/irritable bowel syndrome. Investigate, unless all other features are typical of IBS and age is <40y.
Diarrhoea
Establish what the patient means by diarrhoea. Diarrhoea is the abnormal passage of loose or liquid stools. Causes—see Table 13.2.
History
Duration—termed ‘chronic’ if persists >4wk
Nature of the diarrhoea—colour, consistency, blood/mucus
Contact with anyone else with similar symptoms?
Occupation and travel history
Associated symptoms, e.g. fever, abdominal pain, vomiting, weight ↓
Association with other factors (e.g. food intolerance, stress)
Past medical history—surgery (especially ileal resection or cholecystectomy); pancreatic disease; systemic disease (e.g. DM, thyrotoxicosis)
Family history—inflammatory bowel or coeliac disease; bowel cancer
Alcohol consumption—high intake is associated with diarrhoea
Medication, e.g. antibiotics, regular medications (4% chronic diarrhoea)
Examination
Assess hydration status—BP, pulse rate; dry mouth, ↓ skin turgor, sunken eyes, or sunken fontanelle (babies) are all late signs
Abdomen—masses, distension, tenderness, bowel sounds, stool
Investigation
Send a stool sample for M,C&S if any of the following:
Fever
Blood in stool
Food worker
Recent return from a tropical climate
Immunocompromise
Resident in an institution
Persists >7d
Management of acute diarrhoea and/or vomiting
Treat any identified cause
Rehydration—encourage clear fluid intake (small amounts frequently) ± rehydration salts (use a commercial preparation, e.g. Dioralyte®)
Food—stick to a bland diet, avoiding dairy products until symptoms have settled. Babies who are breastfed or have not been weaned should continue their normal milk
If dehydrated and unable to replace fluids, e.g. diarrhoea with concomitant vomiting or child/elderly person refusing to drink—admit
Never give children antidiarrhoeal agents.
If no cause is found and diarrhoea lasts >4wk or any atypical features, consider referral for urgent investigation— p. 406.
Gastroenteritis
p. 410
Chronic diarrhoea and malabsorption
p. 406
Faecal incontinence
p. 408
Melaena or rectal bleeding
p. 1076
Factitious diarrhoea
p. 407
Some children may become cow’s milk intolerant after a bout of gastroenteritis— p. 889
Think of haemolytic uraemic syndrome in any child with diarrhoea who passes blood in the stool
Further information
NICE Diarrhoea and vomiting in children under 5 (2009) 
www.nice.org.uk
Constipation
3 million GP consultations/y in the UK result from constipation. Differentiate normal stools a few days apart (normal, needs no treatment) and infrequent hard stools (suggests constipation).
Definition
Two or more of the following for ≥3 mo:
Straining at defecation ≥25% of the time
A sensation of incomplete evacuation ≥25% of the time
≤2 bowel movements /wk
Lumpy and/or hard stools ≥25% of the time
Most patients consulting in general practice do not meet these criteria.
Children with constipation
p. 888
Young patients <40y with lone constipation
♀:♂≈ 9:1. Establish symptoms—constipation is usually long-standing in this group. Include drug and diet history. Ask about health beliefs—80% believe their bowels should open daily. Explore concerns about underlying disease. If long-standing ask why the patient is consulting now. Examine the abdomen. Investigate if symptoms/signs suggestive of organic disease (see Table 13.3).
Colonic disease | Carcinoma Diverticular disease Crohn’s disease | Stricture Intussusception Volvulus |
Anorectal disease | Anterior mucosal prolapse Distal proctitis | Anal fissure Perianal abscess |
Pelvic disease | Ovarian tumour Uterine tumour | Endometriosis |
Endocrine/metabolic disorders | Hypercalcaemia Hypothyroidism | DM with autonomic neuropathy |
Drugs | Opioids Antacids containing calcium or aluminium Antidepressants Iron | Antiparkinsonian drugs Anticholinergics Anticonvulsants Antihistamines Calcium antagonists |
Other | Pregnancy Immobility | Poor fluid intake |
Colonic disease | Carcinoma Diverticular disease Crohn’s disease | Stricture Intussusception Volvulus |
Anorectal disease | Anterior mucosal prolapse Distal proctitis | Anal fissure Perianal abscess |
Pelvic disease | Ovarian tumour Uterine tumour | Endometriosis |
Endocrine/metabolic disorders | Hypercalcaemia Hypothyroidism | DM with autonomic neuropathy |
Drugs | Opioids Antacids containing calcium or aluminium Antidepressants Iron | Antiparkinsonian drugs Anticholinergics Anticonvulsants Antihistamines Calcium antagonists |
Other | Pregnancy Immobility | Poor fluid intake |
Management
Treat organic causes. Otherwise:
Give lifestyle advice—↑ fluid intake to ≥2L/d (8–10 cups); avoid alcohol; ↑ exercise if possible; add fibre to diet (↑ fruit/vegetables, eat wholegrain foods, add coarse bran to food); open bowel when needed
If lifestyle advice alone fails and symptoms are causing distress, start an osmotic laxative, e.g. magnesium hydroxide 15mL bd
If an osmotic laxative fails, try a short course of stimulant laxative e.g. senna 1–2 tablets at 5 p.m. either alone or in combination with an osmotic laxative. Long-term use of some stimulant laxatives is reported to cause cathartic atonic colon. Although there is no evidence that senna causes this, in young, fit patients only use short courses or use intermittently, e.g twice weekly
If still constipated specialist referral is warranted
Irritable bowel syndrome with constipation
20% develop symptoms of irritable bowel syndrome (IBS) in their lifetime ( p. 418). Constipation is the predominant symptom in 30%, but other symptoms are usually present. Establish symptoms. Examine the abdomen. Investigation includes FBC, CRP, and coeliac serology to exclude organic causes.
Management
If <40 y, examination and investigations are normal and fulfill IBS criteria ( p. 418), manage as for young patients with lone constipation but avoid osmotic laxatives as they make bloating worse.
Constipation in the over 40s
Any sustained change in bowel habit for >6wk should be taken seriously and investigated if appropriate. Establish symptoms and onset. Specifically ask about tenesmus, blood in stool, abdominal pain, and diarrhoea. Check current medication. Examine the abdomen for masses and hepatomegaly. Rectal examination is essential to exclude low rectal or anal carcinoma and detect faecal impaction.
Management
Check FBC, ESR, renal function tests, LFTs, TFTs, and serum glucose
Image the lower bowel by colonoscopy or CT colography if new symptoms that persist >6wk
Treat any reversible, underlying organic cause—see Table 13.3
Give lifestyle advice (see management of young people with lone constipation)
Treat symptomatically if no cause is found/cause is untreatable
Laxatives—consider an osmotic (e.g. lactulose, magnesium hydroxide) or bulk-forming laxative (e.g. ispaghula, sterculia) ± a stimulant laxative (e.g. senna). Titrate dose to response
Long-term use of stimulant laxatives including co-danthrusate is acceptable in the very elderly. Otherwise, use prn or intermittently
If oral laxatives are ineffective consider adding rectal measures. If soft stool, try bisacodyl suppositories ( must come into direct contact with rectum); if hard stools try glycerin suppositories (act in 1–6h)
If still not cleared/faecal impaction—refer to the district nurse for lubricant ± high phosphate (stimulant) enema (acts in ∼20min)
Once constipation has been cleared, leave the patient with clear instructions about what to do if symptoms recur
High-risk patients, e.g. patients on opioids; those who are immobile or have medical conditions which predispose them to constipation. Pre-empt constipation by putting high-risk patients on regular aperients.
Occult presentations of constipation are common in the elderly and include:
Confusion
Urinary retention
Abdominal pain
Overflow diarrhoea
Loss of appetite and nausea
Other abdominal symptoms and signs
Dyspepsia
p. 382
Abdominal distension
Consider abdominal/pelvic masses and:
Fluid—ascites or full bladder
Fat
Faeces
Flatus—intestinal obstruction; air swallowing
Fetus
Food, e.g. malabsorption
Abdominal masses
Distinguished from pelvic masses by the ability to get beneath them. Causes: Malignancy—any intra-abdominal organ or kidney; stool; abdominal aortic aneurysm; hepato- and/or splenomegaly; appendix mass/abscess; Crohn’s mass; lymph nodes or TB mass. A hernia may present as a mass in abdominal wall/groin lump— p. 392.
Pelvic masses
Causes: fetus; full bladder; fibroids; gynaecological malignancy; bladder cancer.
Splenomegaly
Causes:
Haematological Lymphoma, leukaemia, myeloproliferative disorders, sickle cell disease (children usually), thalassaemia
Inflammatory RA or Sjögren’s syndrome, sarcoid, amyloid
Infection Glandular fever, malaria, SBE, TB, leishmaniasis
Hepatomegaly
Causes:
Apparent Reidel’s lobe, low-lying diaphragm
Tumours Secondary (most common), primary
Venous congestion Heart failure, hepatic vein occlusion
Haematological Leukaemia, lymphoma, myeloproliferative disorders, sickle cell disease
Biliary obstruction Particularly extrahepatic
Inflammation Hepatitis, abscess, schistosomiasis
Metabolic Fatty liver, amyloid, glycogen storage disease
Cysts Polycystic liver, hydatid
Ascites
Free fluid in the peritoneal cavity. Signs: abdominal distension, shifting dullness to percussion, fluid thrill. Causes: Malignancy—any intra-abdominal organ, ovary, or kidney; hypoproteinaemia, e.g. nephrotic syndrome; right heart failure; portal hypertension.
Fistula
Abnormal communication between one organ and another—usually due to cancer or complication of surgery. Presentation—Table 13.4. Refer urgently if suspected.
| Connection | Presentation |
|---|---|
Bowel → skin | Faecal discharge through surgical wound |
Bladder/ureters → skin | Clear, watery discharge which smells of urine |
Bowel → vagina | Faeculent material in vagina |
Bladder → vagina | Leakage of urine per vaginum |
Bowel → bladder | Air or faeculent material in urine; recurrent UTI |
| Connection | Presentation |
|---|---|
Bowel → skin | Faecal discharge through surgical wound |
Bladder/ureters → skin | Clear, watery discharge which smells of urine |
Bowel → vagina | Faeculent material in vagina |
Bladder → vagina | Leakage of urine per vaginum |
Bowel → bladder | Air or faeculent material in urine; recurrent UTI |
Consider checking FBC when referring, depending on local protocols.
Patients presenting with:
Dysphagia
Unexplained upper abdominal pain and weight ↓ ± back pain
Upper abdominal mass without dyspepsia
Obstructive jaundice (depending on clinical state)—consider urgent USS if available
Patients presenting with:
Persistent vomiting and weight ↓ in the absence of dyspepsia
Unexplained weight ↓ or iron deficiency in the absence of dyspepsia
Unexplained worsening of dyspepsia and Barrett’s oesophagus; known dysplasia, atrophic gastritis, or intestinal metaplasia; or peptic ulcer surgery >20y ago
Patients of any age with dyspepsia and:
Chronic GI bleeding
Dysphagia
Progressive unintentional weight ↓
Persistent vomiting
Iron deficiency anaemia
Epigastric mass
Suspicious barium meal result
Any patient ≥55y and with unexplained (i.e. no obvious cause, e.g NSAIDs) and persistent, recent-onset dyspepsia alone. GPs should not allow symptoms to persist >4–6wk before referral.
Helicobacter pylori status should not affect the decision to refer for suspected cancer. Consider checking FBC to exclude iron deficiency anaemia in all patients presenting with new-onset dyspepsia.
Refer urgently to a team specializing in lower GI malignancy if:
with:
Right lower abdominal mass consistent with involvement of large bowel
A palpable rectal mass (intraluminal, not pelvic; a pelvic mass outside the bowel would warrant an urgent referral to a urologist)
Unexplained iron deficiency anaemia (Hb ≤110g/dL for ♂ ≤100g/dL for a non-menstruating ♀)
Reporting rectal bleeding with a change of bowel habit towards looser stools and/or increased stool frequency persisting ≥6wk.
with:
Rectal bleeding persisting for ≥6wk without a change in bowel habit and without anal symptoms
Change in bowel habit to looser stools and/or more frequent stools persisting for ≥6wk without rectal bleeding
In a patient with equivocal symptoms who is not unduly anxious, it is reasonable to ‘treat, watch, and wait’.
Dyspepsia and H. pylori
In any year, up to 40% of the adult population suffer from dyspepsia—1:10 seek their GP’s advice; ∼10% of these are referred for endoscopy.
Causes
Gastro-oesophageal reflux disease (GORD)—15–25% ( p. 386)
Peptic ulcer (PU)—15–25% ( p. 388)
Stomach cancer—2% ( p. 390)
The remaining 60% are classified as non-ulcer dyspepsia (NUD, ‘functional’ dyspepsia)—manage as for uninvestigated dyspepsia
Rarer causes: oesophagitis from swallowed corrosives, oesophageal infection (especially in the immunocompromised)
Differential diagnosis
Cardiac pain (difficult to distinguish), gallstone pain, pancreatitis, bile reflux.
Presentation
Common symptoms include retrosternal or epigastric pain, fullness, bloating, wind, heartburn, nausea, and vomiting. Examination is usually normal though there may be epigastric tenderness. Check for clinical anaemia, epigastric mass/hepatomegaly, and LNs in the neck.
Management
See Figure 13.2.
Algorithm for management of uninvestigated dyspepsia in general practice
Helicobacter pylori
Infection is associated with:
GI disease—peptic ulcer disease; gastric cancer; non-ulcer dyspepsia; oesophagitis
Non-GI disease—ranging from cardiovascular disease and haematological malignancy to cot death
Testing for H. pyloriN
‘Test and treat’ all patients with dyspepsia who do not meet referral criteria (see Figure 13.2). In practice choice of test is limited by availability, ease of access, and cost. Options in the community are: serology, urea breath test, and faecal antigen test. A 2wk washout period following proton pump inhibitor (PPI) use is necessary before testing for H. pylori with a breath test or a stool antigen test.
EradicationN
Clears 80–85% H. pylori infections. Options:
PAC500 regimen Full-dose PPI (e.g. omeprazole 20mg bd) + amoxicillin 1g bd + clarithromycin 500mg bd for 1wk, or
PMC250 regimen Full-dose PPI (e.g. omeprazole 20mg bd) + metronidazole 400mg bd + clarithromycin 250mg bd for 1wk
Do not re-test even if dyspepsia remains unless there is a strong clinical need. Re-test if needed using a urea breath test.
Lifestyle advice
Give advice on healthy eating, weight ↓, and smoking cessation. Advise patients to avoid precipitating factors, e.g. alcohol, coffee, chocolate, fatty foods. Raising the head of the bed and having a main meal well before going to bed may help some people. Promote continued use of antacids/alginates.
Further information
NICE Management of dyspepsia in adults in primary care (2004) www.nice.org.uk
Oesophageal conditions
Oesophagitis
Common condition. Reflux of acid from the stomach to the oesophagus causes mucosal damage resulting in inflammation and ulceration. Other causes: drugs (e.g. NSAIDs); infection (e.g. CMV, HSV, candida—especially in the immunocompromised); ingestion of caustic substances.
Management
Treat reflux-induced oesophagitis as for GORD— p. 386. Otherwise treat the cause.
Barrett’s oesophagus
p. 387.
Chronic benign stricture
Recurrent oesophagitis (e.g. 2° to GORD, NSAIDs, K+ preparations) scars the oesophagus resulting in stricture formation. Most common in elderly women.
Presentation
Long history of reflux with more recent dysphagia. If obstruction is severe undigested food may be regurgitated immediately after swallowing. May be associated with night-time coughing paroxysms due to aspiration of gastric contents into the chest. Examination is usually normal.
Management
Refer for urgent endoscopy to confirm diagnosis and exclude carcinoma. Treatment is by endoscopic dilatation of the stricture.
Carcinoma of the oesophagus
p. 390
Presbyoesophagus
Common among the elderly. Intermittent sensation that food is getting stuck—usually at the back of the throat. Examination is normal as is endoscopy. Barium swallow or oesophageal motility studies may reveal oesophageal spasm. Reassure.
Globus pharyngis (or hystericus)
Sensation of a lump in the throat without difficulty swallowing is common. It may indicate anxiety. Reassure if no organic signs and treat any dyspepsia. If not responding refer to ENT for exclusion of an organic cause.
Oesophageal achalasia
Failure of relaxation of the circular muscles at the distal oesophagus. Peak incidence: 30–40y; ♀ slightly >♂.
Presentation
Gradual onset of dysphagia over years accompanied by regurgitation of stagnant food and foul belching. Night-time coughing fits are due to aspiration which can result in recurrent chest infections. Examination is usually normal although there may be signs of aspiration pneumonia.
Management
CXR to exclude aspiration pneumonia; endoscopy confirms diagnosis. Refer for surgery.
Plummer–Vinson syndrome
Iron deficiency anaemia + dysphagia due to a post-cricoid web in the oesophagus. ♀ > ♂. Peak incidence: 40–50y. Presents with high dysphagia with food sticking in the back of the throat ± retching/choking sensation. This is a pre-malignant condition so refer for biopsy and dilatation of pharyngeal web; replace iron.
H.S. Plummer (1874–1936); P.P. Vinson (1890–1959)—US physicians.
Pharyngeal pouch
Pulsion diverticulum of the pharyngeal mucosa through Killian’s dehiscence (area of weakness between the 2 parts of the inferior pharyngeal constrictor). ♂ > ♀; ↑ with age. Usually develops posteriorly then protrudes to one side—L > R. As the pouch gets larger the oesophagus is displaced laterally.
Presentation
Dysphagia—the first mouthful is swallowed easily, then fills the pouch which makes further swallowing difficult. Accompanied by regurgitation of food from the pouch ± symptoms of aspiration (night-time coughing, recurrent chest infection). A swelling is palpable in the neck in two-thirds of cases.
Management
Refer for further investigation. Diagnosis is confirmed with endoscopy/barium swallow. Treatment is surgical.
Oesophageal varices
Result from portal hypertenion ( p. 425) and can bleed massively—admit as a ‘blue light’ emergency if bleeding.
Impacted oesophageal foreign body
Usually the patient notices something has stuck resulting in pain, difficulty swallowing ± retching. If suspected refer immediately to A&E for further investigation ± removal of the foreign body.
Oesophageal perforation
Rare—usually a complication of endoscopy. Less commonly due to violent vomiting. The patient becomes very distressed with pain relating to the site of perforation which is worse on swallowing. Examination reveals tachycardia, shock ± pyrexia ± breathlessness ± surgical emphysema in neck. Admit as a surgical emergency.
Oesophageal atresia and/or tracheo-oesophageal fistula 1:2,500 live births. 5% have oesophageal atresia alone; 5% tracheo-oesophageal fistula (TOF) alone; the remainder have both. Risk factor for sudden infant death syndrome.
Antenatal: at routine USS or following investigation of polyhydramnios
Post-natal: cough or breathing difficulties in a newborn infant, choking on the first feed, inability to swallow saliva → bubbling of fluid from the mouth, developing soon after birth
Later in childhood: ‘H type’ fistulas where there is no atresia, but just a fistula may present late with recurrent chest infections
Diagnosis is confirmed with X-ray. Treatment is surgical. Post-operatively children may have a barking cough (‘TOF cough’) and/or dysphagia—both settle before 2y.
Gastro-oesophageal reflux and gastritis
Gastro-oesophageal reflux disease (GORD)
Caused by retrograde flow of gastric contents through an incompetent gastro-oesophageal junction. It affects ∼5% of the adult population.
Risk factors
Smoking
Alcohol
Coffee
Fatty food
Big meals
Obesity
Hiatus hernia
Tight clothes
Pregnancy
Systemic sclerosis
Drugs (NSAIDs, TCAs, SSRIs, iron supplements, anticholinergics, nitrates, alendronic acid)
Surgery for achalasia
Conditions caused by GORD
Oesophagitis (defined by mucosal breaks) ± oesophageal ulcer
Benign oesophageal stricture— p. 384
Intestinal metaplasia: Barrett’s oesophagus
Oesophageal haemorrhage
Anaemia
Presentation
Heartburn: most common symptom. Burning retrosternal or epigastric pain which worsens on bending, stooping or lying, and with hot drinks. Relieved by antacids
Other symptoms:
Waterbrash—mouth fills with saliva
Reflux of acid into the mouth—especially on lying flat
Nausea and vomiting
Nocturnal cough/wheeze due to aspiration of refluxed stomach contents
Examination: usually normal. Check for clinical anaemia, epigastric mass/hepatomegaly, and LNs in the neck
Investigation
Symptoms are poorly correlated with endoscopic findings. Reflux may remain silent in patients with Barrett’s oesophagus but heartburn can severely affect quality of life of patients with −ve endoscopy results.
Initial managementN
In all cases, give lifestyle advice ( p. 382)
For patients with reflux confirmed on endoscopy, offer treatment with a PPI (e.g. omeprazole 20mg od) for 1–2mo. If oesophagitis at endoscopy and the patient remains symptomatic on PPI, double the dose of PPI for a further 1mo
If inadequate response to PPI, try an H2 receptor antagonist (e.g. ranitidine 150mg bd) and/or add a prokinetic (e.g. domperidone 10mg tds) for 1mo
Long-term management
of endoscopically/barium-confirmed GORDN.
Patients who have had dilatation of an oesophageal stricture should remain on long-term full-dose PPI therapy
For all other patients, if symptoms recur following initial treatment, offer a PPI at the lowest dose possible to control symptoms, with a limited number of repeat prescriptions. Discuss using the treatment on an as-required basis to manage symptoms
Refer for consideration of surgery if quality of life remains significantly impaired despite optimal treatment. Surgery of any type is >90% successful although results may deteriorate with time
Hiatus hernia
Common (30% of over 50s); 50% have GORD. Obesity is a risk factor. The proximal stomach herniates through the diaphragmatic hiatus into the thorax
80% have a ‘sliding’ hiatus hernia where the gastro-oesophageal junction slides into the chest
20% have a ‘rolling’ hernia where a bulge of stomach herniates into the chest alongside the oesophagus. The gastro-oesophageal junction remains in the abdomen
Management
Treat as for GORD.
Barrett’s oesophagus
Usually found incidentally at endoscopy for symptoms of GORD and caused by chronic GORD. The squamous mucosa of the oesophagus undergoes metaplastic change, and the squamocolumnar junction appears to migrate away from the stomach. The length affected varies. It carries a x40 ↑ risk of adenocarcinoma of the oesophagus, so regular endoscopy is essential. Treatment is with long-term PPIs (e.g omeprazole 20–40mg od) ± laser therapy ± resection. N.R. Barrett (1903–1979)—British surgeon.
Acute gastritis
Mucosal inflammation of the stomach with no ulcer.
Type A: affects the entire stomach; associated with pernicious anaemia; pre-malignant
Type B: affects antrum ± duodenum; associated with H. pylori
Type C: due to irritants, e.g. NSAIDs, alcohol, bile reflux
Presentation and investigation
Dyspepsia— p. 382
Management
Treat the cause where possible (e.g. vitamin B12 injections; H. pylori eradication; avoidance of alcohol)
Acid suppression—H2 receptor antagonist (e.g. ranitidine, nizatidine) or PPI for 4–8wk
Re-endoscope to confirm healing
Complications
Haemorrhage, gastric atrophy ± gastric cancer (type A only).
Peptic ulceration
| Gastric ulcer (GU) | Duodenal ulcer (DU) | |
|---|---|---|
Population | Typically affects middle-aged/elderly ♂ | Typically affects young–middle-aged ♂, although can affect any adult. ♂ > ♀ |
Risk factors | H. pylori (70–90%) NSAID use (↑ risk x3–4) Delayed gastric emptying Reflux from the duodenum (↑ by smoking) | H. pylori (>90%) NSAID use Gastric hyperacidity Rapid gastric emptying Smoking Stress ( |
Presentation | May be asymptomatic Epigastric pain worsened by food and helped by antacids or lying flat ± weight loss With complications | May be asymptomatic or spontaneously relapse and remit Epigastric pain typically relieved by food and worse at night ± weight ↑ ± waterbrash (saliva fills the mouth) With complications |
Examination | In uncomplicated gastric ulceration, examination is usually normal, though there may be epigastric/left upper quadrant tenderness | In uncomplicated duodenal ulceration, examination is usually normal, though there may be epigastric tenderness |
Investigation | As for dyspepsia ( | |
Complications | Perforated peptic ulcer: DU > GU; GUs may perforate posteriorly into the lesser sac; DUs usually perforate anteriorly into the peritoneal cavity. There may not be a past history of indigestion. Presents with sudden onset severe epigastric pain which rapidly becomes generalized. When a GU perforates into the lesser sac symptoms may remain localized or be confined to the right side of the abdomen. Examination: generalized peritonism with ‘board-like rigidity’. Management: acute surgical admission Pyloric stenosis in adults: duodenal stenosis 2° to scarring from a chronic DU. Characterized by copious vomiting of food 1–2 days old. There may not be a past history of indigestion. Examination: if prolonged vomiting may be evidence of dehydration ± weight ↓. Succussion splash may be audible. Management: surgical referral for confirmation of diagnosis and surgical relief | |
)| Gastric ulcer (GU) | Duodenal ulcer (DU) | |
|---|---|---|
Population | Typically affects middle-aged/elderly ♂ | Typically affects young–middle-aged ♂, although can affect any adult. ♂ > ♀ |
Risk factors | H. pylori (70–90%) NSAID use (↑ risk x3–4) Delayed gastric emptying Reflux from the duodenum (↑ by smoking) | H. pylori (>90%) NSAID use Gastric hyperacidity Rapid gastric emptying Smoking Stress ( |
Presentation | May be asymptomatic Epigastric pain worsened by food and helped by antacids or lying flat ± weight loss With complications | May be asymptomatic or spontaneously relapse and remit Epigastric pain typically relieved by food and worse at night ± weight ↑ ± waterbrash (saliva fills the mouth) With complications |
Examination | In uncomplicated gastric ulceration, examination is usually normal, though there may be epigastric/left upper quadrant tenderness | In uncomplicated duodenal ulceration, examination is usually normal, though there may be epigastric tenderness |
Investigation | As for dyspepsia ( | |
Complications | Perforated peptic ulcer: DU > GU; GUs may perforate posteriorly into the lesser sac; DUs usually perforate anteriorly into the peritoneal cavity. There may not be a past history of indigestion. Presents with sudden onset severe epigastric pain which rapidly becomes generalized. When a GU perforates into the lesser sac symptoms may remain localized or be confined to the right side of the abdomen. Examination: generalized peritonism with ‘board-like rigidity’. Management: acute surgical admission Pyloric stenosis in adults: duodenal stenosis 2° to scarring from a chronic DU. Characterized by copious vomiting of food 1–2 days old. There may not be a past history of indigestion. Examination: if prolonged vomiting may be evidence of dehydration ± weight ↓. Succussion splash may be audible. Management: surgical referral for confirmation of diagnosis and surgical relief | |
Management
For patients not taking NSAIDs
Eradicate H. pylori if present ( p. 382). Speeds ulcer healing and ↓ relapse; confirm eradication with a urea breath test (duodenal ulcer) or repeat endoscopy (gastric ulcer), and retreat if still present
If H. pylori negative Treat with full-dose PPI (e.g omeprazole 20mg od) for 1–2mo. If gastric ulcer, re-endoscope to check ulcer is healed
For patients taking NSAIDs
Stop NSAIDs where possible. If not possible consider changing to a safer alternative (e.g. paracetamol, ↓ dose of NSAID, COX2-selective NSAID) and adding gastric protection with a PPI or misoprostol
Offer full-dose PPI or H2 receptor antagonist (H2RA) therapy for 2mo and, if H. pylori is present, subsequently offer eradication therapy
Check eradication with repeat endoscopy (gastric ulcer) or urea breath test (duodenal ulcer)
For all patients
Lifestyle measures Avoid foods (or alcohol) which exacerbate symptoms; eat little and often; avoid eating <3h before bed. Stop smoking
If symptoms recur following initial treatment Offer a PPI at lowest dose to control symptoms, with a limited number of repeat prescriptions. Discuss using the treatment on a prn basis
Offer H2RA therapy If there is an inadequate response to a PPI
In patients with unhealed ulcer or continuing symptoms Despite adequate treatment, exclude non-adherence, malignancy, failure to detect H. pylori, inadvertent NSAID use, other ulcer-inducing medication, and rare causes, e.g. Zollinger–Ellison syndrome, Crohn’s disease
Once symptoms are controlled Review at least annually to discuss symptom control, lifestyle advice, and medication
Refer If gastric ulcer fails to heal or if symptoms do not respond to medical treatment. Possible surgical procedures include: gastrectomy, vagotomy, and drainage procedure; highly selective vagotomy
Zollinger–Ellison syndrome
Association of peptic ulcer with a gastrin-secreting pancreatic (rarely duodenal) adenoma—50–60% are malignant, 10% are multiple, and 30% are associated with multiple endocrine neoplasia (MEN I). Incidence: 0.1% of patients with duodenal ulcer disease. Suspect in those with multiple peptic ulcers resistant to drugs, particularly if associated with diarrhoea ± steatorrhoea or a family history of peptic ulcers (or islet cell, pituitary, or parathyroid adenomas). Refer for further investigation. Treatment is with PPIs (e.g omeprazole 10–60mg bd) ± surgery.
R.M. Zollinger (1903–1992); E.H. Ellison (1918–1970)—US surgeons.
Further information
NICE Management of dyspepsia in adults in primary care (2004) www.nice.org.uk
Gastro-oesophageal malignancy
Carcinoma of the oesophagus
Common cancer accounting for 7,500 deaths/y in the UK. Most common in patients >60y. Overall, ♂:♀ ≈ 5:1. Usually presents late when prognosis is poor. Two types:
Squamous cell carcinoma (50%)—predominant form in upper two-thirds of the oesophagus
Adenocarcinoma (50%)—predominant in lower third of the oesophagus. Incidence is increasing. ♂:♀ ≈5:1
Common risk factors
| Squamous cell carcinoma | Adenocarcinoma |
|---|---|
• Smoking* • Obesity • Low fruit/vegetable intake • GORD—particularly Barrett’s oesophagus (risk ↑ >30x—the longer the affected segment, the higher the risk) |
| Squamous cell carcinoma | Adenocarcinoma |
|---|---|
• Smoking* • Obesity • Low fruit/vegetable intake • GORD—particularly Barrett’s oesophagus (risk ↑ >30x—the longer the affected segment, the higher the risk) |
Risk ↓ to that of a non-smoker 10y after giving up
Other risk factors
Previous mediastinal radiotherapy (↑ x2 for patients treated for breast cancer; ↑ x20 for patients treated for Hodgkin’s lymphoma)
Plummer–Vinson (or Patterson–Kelly) syndrome—oesophageal web and iron deficiency anaemia
Tylosis—rare, inherited disorder with hyperkeratosis of the palms; 40% develop oesophageal cancer
Presentation
Short history of rapidly progressive dysphagia affecting solids initially then solids and liquids ± weight loss ± regurgitation of food and fluids (may be bloodstained). Retrosternal pain is a late feature. Other symptoms include hoarseness and/or cough (due to aspiration or fistula formation). Examination may be normal. Look for evidence of recent weight loss, hepatomegaly, and cervical lymphadenopathy.
Management
Refer for urgent endoscopy if suspected. Rapid access dysphagia clinics are run in most areas. Specialist management involves resection (treatment of choice but only 1:3 patients are suitable), chemotherapy, radiotherapy, and/or palliation with a stenting tube. Tubes commonly become blocked. Good palliative care is essential—refer early ( p. 1028). Overall 8% 5y survival.
Stomach cancer
Stomach cancer causes ∼5,000 deaths/y in the UK; 95% are adenocarcinomas. Disease affecting older people, with 92% diagnosed >55y; ♂ > ♀ (5:3). Incidence has more than halved over the past 30y in the UK probably due to improved diet.
Other risk factors
Include:
Geography—common in Japan
Blood group A
H. pylori infection (not clear if eradication ↓ risk)
Atrophic gastritis
Pernicious anaemia
Smoking
Adenomatous polyps
Social class
Previous partial gastrectomy
Presentation
Often non-specific. Presents with dyspepsia, weight ↓, anorexia or early satiety, vomiting, dysphagia, anaemia, and/or GI bleeding. Suspect in any patient >55y with recent onset dyspepsia (within 1y) and/or other risk factors. Examination is usually normal until incurable. Look for epigastric mass, hepatomegaly, jaundice, ascites, enlarged supraclavicular LN (Virchow’s node), acanthosis nigricans.
Management
If suspected, refer for urgent endoscopy. In early stages total/partial gastrectomy may be curative. Most present at later stage. Overall 5y survival is 15%.
Post-gastrectomy syndromes
Abdominal fullness
A feeling of early satiety ± weight loss. Advise to take small, frequent meals.
Bilious vomiting
Affects ∼10% patients post-gastrectomy. Intermittent, sudden attacks of bilious vomiting 15–30min after eating ± epigastric cramping pain relieved by vomiting. Usually settles spontaneously. Metoclopramide or domperidone may be helpful in the interim. If symptoms are severe or fail to settle, request surgical review. Surgical bile diversion or stomach reconstruction may alleviate symptoms.
Dumping
Abdominal distension, colic, and vasomotor disturbance (e.g. sweating, fainting) after meals. Affects 1–2% of gastrectomy patients (more common early after surgery—most settle within 6mo). 2 types:
Early dumping Due to rapid gastric emptying. Starts immediately after a meal. Consists of: sweating, flushing, tachycardia, palpitations, epigastric fullness, nausea. Occasionally there may be vomiting, diarrhoea ± colicky abdominal pain. Advise: small, dry meals with restricted carbohydrate. Take drinks between meals. If severe, re-refer
Late dumping Due to rapid gastric emptying → hyperglycaemia. The resultant hyperinsulinaemia causes a rebound hypoglycaemia. Starts 1–2h after meals. Consists of: faintness, sweating, tremor, and nausea. Advise patients to ↓ the sugar content of meals, rest for 1h after each meal, and take glucose if symptoms occur. If severe, re-refer
Diarrhoea post-gastrectomy
50% of patients who have had a truncal vagotomy or gastrectomy suffer some frequency of defecation; 5% require treatment. The diarrhoea is typically episodic and unpredictable. The exact mechanism is not clear. Treatment is with codeine phosphate or loperamide prn. Antibiotic treatment is occasionally successful—seek expert advice. Surgical measures are rarely necessary.
Anaemia
Gastrectomy can result in both vitamin B12 deficiency and iron deficiency anaemia. Prophylactic B12 injections may be advised by the operating surgeon. Many advise iron supplements for life. An annual FBC to monitor for anaemia is advisable. Treat with iron/B12 supplements.
Stomach cancer
Risk of stomach cancer is ↑ after partial gastrectomy (2x after 20y, and 7x after 45y).
Advice and support for patients
Cancer Research UK 
0808 800 4040 www.cancerhelp.org.uk
Macmillan Cancer Support 0808 808 0000 www.macmillan.org.uk
Hernias
Most types of hernia may become irreducible
It may be the first presentation of a hernia or a complication of a longstanding hernia
If obstructed (incarcerated) or strangulated (blood supply to bowel contained within the hernia sac is compromised) the hernia is tender and there are symptoms/signs of small bowel obstruction
If you are unable to reduce a hernia, admit for surgical assessment.
Inguinal hernia
Protruberance of peritoneal contents through the abdominal wall where it is weakened by the presence of the inguinal canal. Common condition (♂ > ♀) which can occur at any age.
Presentation
Lump in the groin ± discomfort on straining/standing for any length of time. There may be a distinct precipitating event (e.g. heavy lifting). Risk factors: chronic cough (e.g. COPD), constipation, urinary obstruction, heavy lifting, ascites, previous abdominal surgery. 2 types:
Indirect (80%) Follow the course of the spermatic cord or round ligament down the inguinal canal through the internal inguinal ring (located at the mid-point of the inguinal ligament, 1.5cm above the femoral pulse), and sometimes out through the external inguinal ring into the scrotum/vulva
Direct (20%) Passes through a defect in the abdominal wall into the inguinal canal. Rare in children and more common in the elderly
Differential diagnosis of groin lumps
See Table 13.6.
| Position relative to the inguinal ligament | |||
|---|---|---|---|
| Position relative to the skin | Groin lump | Above | Below |
In the skin | Lipoma, fibroma, haemangioma, and other skin lumps | ✓ | ✓ |
Deep to the skin | Femoral or inguinal lymph nodes | ✓ | ✓ |
Saphena varix of the femoral vein | ✗ | ✓ | |
Femoral artery aneurysm | ✗ | ✓ | |
Femoral hernia | ✗ | ✓ | |
Inguinal hernia | ✓ | ✗ | |
| Position relative to the inguinal ligament | |||
|---|---|---|---|
| Position relative to the skin | Groin lump | Above | Below |
In the skin | Lipoma, fibroma, haemangioma, and other skin lumps | ✓ | ✓ |
Deep to the skin | Femoral or inguinal lymph nodes | ✓ | ✓ |
Saphena varix of the femoral vein | ✗ | ✓ | |
Femoral artery aneurysm | ✗ | ✓ | |
Femoral hernia | ✗ | ✓ | |
Inguinal hernia | ✓ | ✗ | |
Examination
Examine the patient standing up. Look for a bulge in the groin above the line of the inguinal ligament. Unless incarcerated the lump should have a cough impulse. Check that you are able to reduce the hernia—sometimes, it is easier if the patient lies down. Ask the patient to reduce the hernia if you cannot.
Management
Small hernias often require no treatment. For larger hernias and smaller hernias that are symptomatic, consider referral for surgical repair. Various methods are used—all have a high level of success (<2% recurrence). Trusses can be useful for symptomatic hernias in elderly patients, those unfit for surgery, or whilst awaiting surgery (prescribe on NHS prescription).
Inguinal hernias in children
p. 890
Femoral hernia
Less common than inguinal hernia. ♂ > ♀. The patient is usually elderly, although can occur at any age. Peritoneal contents protrude down the femoral canal. Risk of strangulation is high. Presents as a painful lump in the groin and/or small bowel obstruction.
Examination
Rounded swelling medially in the groin and lateral to the pubic tubercle; if reducible a soft palpable lump remains after reduction.
Management
Always refer for urgent surgical repair. Admit as surgical emergency if obstructed or irreducible.
Incisional hernia
Breakdown of the muscle closure in an abdominal wound sometime after surgery. There may be a history of wound sepsis, haematoma, or breakdown. Presents with a bulge at the site of the operation scar ± discomfort.
Examination
The hernia is usually visible when the patient stands—it can be made more obvious by asking the patient to cough or straight leg raise whilst lying flat. The margins of the muscular defect are palpable under the skin. Note whether fully reducible or not.
Management
Often reassurance suffices. If obstructed/strangulated or causing discomfort, then refer for surgical assessment.
Umbilical hernia
Most common in infants ( p. 890). In adults para-umbilical hernias, presenting as a bulge adjacent to the umbilicus, may occur due to weakness in the linea alba. ♀ > ♂. Refer adults for surgical assessment—usually repaired as risk of strangulation is high. Admit as a surgical emergency if obstructed/irreducible.
Epigastric hernia
Midline hernia through a defect in the linea alba above the umbilicus. Never contains bowel. Usually symptomless, though occasionally causes epigastric pain ± vomiting. Examination: epigastric mass with cough impulse. Refer for surgical repair.
Spigelian hernia
A hernial sac protrudes lateral to the rectus sheath midway between the umbilicus and pubic bone. Presents with discomfort ± vomiting. Refer for surgical repair.
Obturator hernia
Hernia protrudes out from the pelvis through the obturator canal. Usually presents with strangulation ± pain referred to the knee. Admit for surgery.
Richter hernia
A knuckle of the side wall of the gut gets caught in a hernia sac and becomes strangulated but the bowel is not obstructed. Presents with abdominal pain which rapidly becomes worse ± shock. Admit as for acute abdomen; diagnosis is usually made at surgery.
The inguinal ligament runs from the pubic tubercle medially to the anterior superior iliac spine laterally.
Appendicitis and small bowel disease
Acute appendicitis
Most common surgical emergency in the UK. Peak age: 10–30y. Presents with central abdominal colic that progresses to localize in the right iliac fossa. Pain is worse on movement (especially coughing, laughing) and associated with anorexia, nausea ± vomiting, dysuria, constipation or rarely diarrhoea.
Assessment
Watch for discomfort on walking (walk stooped). May be flushed and unwell—pyrexial (∼37.5°C); furred tongue and/or foetor oris; tenderness, rebound tenderness and guarding in the right iliac fossa (especially over McBurney’s point—two-thirds of the distance between the umbilicus and anterior superior iliac spine); pain in the right iliac fossa on palpation of the left iliac fossa (Rovsing’s sign). Urinalysis is normal or +ve for protein and/or leucocyte esterase but −ve for nitrites.
Differential diagnosis
Mesenteric adenitis
Gastroenteritis
Meckel’s diverticulum
Intussusception
Crohn’s disease
Urological cause, e.g. UTI, testicular torsion
Gynaecological cause (e.g. pelvic inflammatory disease; ectopic pregnancy)
Non-abdominal cause, e.g. otitis media, diabetic ketoacidosis, pneumonia
Management
Admit as a surgical emergency—expect to be wrong ∼50% the time. Complications: generalized peritonitis 2° to perforation; appendix abscess; appendix mass; subphrenic abscess; female infertility.
Subphrenic abscess
Rarely follows 7–21d after generalized peritonitis—particularly after acute appendicitis. Presents with general malaise, swinging fever, nausea, and weight ↓ ± pain in the upper abdomen radiating to the shoulder tip. Breathlessness can be associated due to reactive pleural effusion or lower lobe collapse. Examination: subcostal tenderness ± liver enlargement. FBC—↑ WCC. If suspected admit for surgical assessment.
Appendicitis in pregnancy Appendicitis affects 1:1,000 pregnancies. Mortality is ↑ and perforation more common (15–20%). Fetal mortality is 5–10% for simple appendicitis; 30% when there is perforation. Due to the pregnancy, the appendix is displaced—pain is often felt in the paraumbilical region or subcostally. Admit immediately if suspected.
Children with appendicitis Symptoms/signs of appendicitis may be atypical—especially in very young children—as children localize pain poorly and signs of peritonitis can be difficult to elicit.
If unsure of diagnosis and the child is unwell, admit
If unsure of diagnosis and the child is well, either arrange to review a few hours later, or ask the carer to contact you if there is any deterioration, or change in symptoms
Inflammation of the mesenteric LNs, causing abdominal pain in children. May follow URTI. Can mimic appendicitis. Check MSU to exclude UTI. If guarding/rebound tenderness, refer for acute surgical assessment. Settles spontaneously with simple analgesia and fluids. If not settling in 1–2wk refer for paediatric assessment.
Meckel’s diverticulum
Remnant of the attachment of the small bowel to the embryological yolk sac. It is 2 inches (∼5cm) long, ∼2ft (60cm) proximal to the appendix and present in 2% of the population. A Meckel’s diverticulum may not cause any problems or cause an appendicitis-like picture; acute intestinal obstruction, or GI bleeding. Symptoms can occur at any age but are most common in children.
J.F. Meckel (1781–1833)—German anatomist.
Intussusception
p. 891
Crohn’s disease
p. 414
Coeliac disease
p. 412
Obstruction and ischaemia
p. 400
Adhesions
Arise as a result of intra-abdominal inflammation. Bowel loops become adherent to each other, omentum, mesentery, and the abdominal wall. Fibrous bands may form connecting adjacent structures. Presents with abdominal pain ± obstruction. Causes: surgery; intra-abdominal sepsis (e.g. appendicitis, cholecystitis; salpingitis); inflammatory bowel disease; endometriosis. Refer to a surgeon. Treatment is difficult, as any surgery may result in new adhesions; conservative management with analgesia and stool softeners is preferred. Laparoscopic, or rarely open division of adhesions is occasionally necessary.
Intestinal non-Hodgkin’s lymphoma
The majority of intestinal NHLs are B-cell type lymphomas, but coeliac disease is associated with T-cell intestinal lymphoma. Abdominal symptoms: non-specific abdominal pain (70–80%); perforation (up to 25%); bowel obstruction; abdominal mass; intussusception; malabsorption (usually lymphoma associated with coeliac disease), or alteration in bowel habit (small intestine NHL may present like Crohn’s disease). Systemic symptoms: weight ↓ (30%), fatigue, sweats, unexplained fevers. Lymphadenopathy and hepatosplenomegaly are usually absent.
Management
( p. 680) Gastric lymphoma may remit with treatment of H. pylori infection.
Carcinoid tumours
Slow-growing tumours of low malignancy, which arise from neuroendocrine cells or their precursors. Incidence: 3–4/100,000. Peak age: 61y. ♀ > ♂. 60% are in the midgut (especially appendix and terminal ileum). Examination may reveal an abdominal mass and/or enlarged liver. Rarely presents with bowel obstruction. Ileal carcinoids are multiple in 30%. Non-intestinal sites: lung, testes, and ovary.
Carcinoid syndrome
Affects <10% of patients with a carcinoid tumour. Develops when serotonin (5HT) is released by the tumour and not degraded by the liver due to hepatic metastases. Features:
Paroxysmal flushing, e.g. following alcohol or certain foods
Watery, explosive diarrhoea
Abdominal pain
Bronchoconstriction (like asthma)
Right heart failure
Rash—symmetrical, pruritic erythematous rash which blisters/crusts
Management
Refer for urgent assessment if suspected. Therapeutic options include surgery, somatostatin analogues such as octreotide, or radiofrequency ablation of liver metastases. Prognosis—if no metastases, median survival is 5–8y; with metastases median survival is 38mo.
Colorectal cancer screening
Screening for colorectal cancer is available throughout the UK. Patients presenting with tumour confined to the bowel wall have >90% long-term survival. Without screening, most tumours are detected at advanced stages and overall 5y survival is ≈50%. Screening aims to detect colorectal cancer at an early stage to ↑ survival chances.
Screening test
Faecal occult blood (FOB) test kits are sent every 2y to all patients aged 60–74y with instructions for completion/return. The test kit has 3 flaps, each with 2 windows underneath. 2 samples are taken from a bowel motion and spread onto the 2 windows under the first flap using the cardboard sticks provided. The flap is then sealed and the process repeated using the remaining 2 flaps for the subsequent 2 bowel motions. Once all 6 windows have been used, the kit is returned. Kits must be returned <14d after the first sample is taken. Results are sent to the patients in <2wk.
Screening outcomes
| FOB result | Explanation | Action |
|---|---|---|
Normal | 0 +ve spots | Screening offered again in 2y if <70y |
Unclear ∼4% tested | 1–4 +ve spots | Test repeated If the second test is abnormal, colonoscopy is offered If the second test is normal, a third test is requested If the third test is normal, repeat screening in 2y is offered if <70y If the third test is abnormal, colonoscopy is offered |
Abnormal | 5–6 +ve spots | Colonoscopy is offered |
Technical failure or spoilt kit | Laboratory or patient error | Repeat testing is offered |
| FOB result | Explanation | Action |
|---|---|---|
Normal | 0 +ve spots | Screening offered again in 2y if <70y |
Unclear ∼4% tested | 1–4 +ve spots | Test repeated If the second test is abnormal, colonoscopy is offered If the second test is normal, a third test is requested If the third test is normal, repeat screening in 2y is offered if <70y If the third test is abnormal, colonoscopy is offered |
Abnormal | 5–6 +ve spots | Colonoscopy is offered |
Technical failure or spoilt kit | Laboratory or patient error | Repeat testing is offered |
• ∼2% of those FOB tested are referred on for colonoscopy—uptake of colonoscopy is ∼80% • Sensitivity of colonoscopy to detect significant abnormalities is ∼90% • Polyps found during colonoscopy are usually removed • Complications of colonoscopy include heavy bleeding (1:150); bowel perforation (1:1,500); death (1:10,000) |
• ∼2% of those FOB tested are referred on for colonoscopy—uptake of colonoscopy is ∼80% • Sensitivity of colonoscopy to detect significant abnormalities is ∼90% • Polyps found during colonoscopy are usually removed • Complications of colonoscopy include heavy bleeding (1:150); bowel perforation (1:1,500); death (1:10,000) |
| Colonoscopy result | Explanation | Action | |
|---|---|---|---|
Normal (∼50%) | No abnormalities detected | FOB screening offered again in 2y if <70y | |
Polyp (∼40%) | Low risk | 1–2 small (<1cm) adenomas | FOB screening offered again in 2y if <70y |
Intermediate risk | 3–4 small (<1cm) adenomas or ≥1 adenoma ≥1cm | 3-yearly colonoscopy until 2x negative examinations | |
High risk | ≥5 adenomas or ≥3 adenomas of which at least 1 is ≥1cm | Colonoscopy at 12mo, then 3-yearly colonoscopy until 2x negative examinations | |
Cancer (∼10%) | Colorectal cancer detected at colonoscopy | Refer urgently for further treatment | |
Other pathology | Other pathology (e.g. UC) detected at colonoscopy | Refer/treat/advise as necessary | |
Technical difficulty | Unable to perform the procedure adequately | Repeat colonoscopy or alternative imaging | |
| Colonoscopy result | Explanation | Action | |
|---|---|---|---|
Normal (∼50%) | No abnormalities detected | FOB screening offered again in 2y if <70y | |
Polyp (∼40%) | Low risk | 1–2 small (<1cm) adenomas | FOB screening offered again in 2y if <70y |
Intermediate risk | 3–4 small (<1cm) adenomas or ≥1 adenoma ≥1cm | 3-yearly colonoscopy until 2x negative examinations | |
High risk | ≥5 adenomas or ≥3 adenomas of which at least 1 is ≥1cm | Colonoscopy at 12mo, then 3-yearly colonoscopy until 2x negative examinations | |
Cancer (∼10%) | Colorectal cancer detected at colonoscopy | Refer urgently for further treatment | |
Other pathology | Other pathology (e.g. UC) detected at colonoscopy | Refer/treat/advise as necessary | |
Technical difficulty | Unable to perform the procedure adequately | Repeat colonoscopy or alternative imaging | |
Family history
If a patient has one first-degree relative (mother, father, sister, brother, daughter, or son) with colorectal cancer, risk of developing colorectal cancer is ↑ 2–3x.
Refer for colonoscopy
At presentation or aged 35–40y (whichever is later), and repeat colonoscopy aged 55y if:
2x first-degree relatives with a history of colorectal cancer, or
1x first-degree relative with a history of colorectal cancer aged <45y
Refer for specialist follow-up and genetic counselling
if:
>2x first-degree relatives with a history of colorectal cancer, or
Family history of:
Familial adenomatous polyposis (FAP)—usually develop cancer aged <40y. Lifetime risk of colorectal cancer is 1:2.5
Juvenile polyposis—lifetime risk of colorectal cancer is 1:3
Peutz–Jegher syndrome—autosomal dominant disorder. Benign intestinal (usually small intestine) polyps in association with dark freckles on lips, oral mucosa, face, palm and soles. May cause GI obstruction or GI bleeding. Malignant change occurs in ∼3%
Hereditary non-polyposis colorectal cancer—≥3 family members with colorectal cancer where ≥2 generations have been affected and ≥1 affected family member developed the disease <50y of age; 40% lifetime risk of colorectal cancer
MMR (mismatch repair) oncogene
Ulcerative colitis
↑ risk of colorectal cancer. Offer all patients a follow-up plan agreed with their specialist. In some cases, prophylactic colectomy is appropriate.
Previous colorectal cancer
↑ risk of developing a second colorectal primary. After successful treatment, younger patients are routinely followed up with colonoscopy every 5y until 70y. Remain vigilant for recurrences, and re-refer urgently if suspected.
Further information
NICE Referral guidelines for suspected cancer (2005) 
www.nice.org.uk
NHS Bowel Cancer Screening Programme www.cancerscreening.nhs.uk/bowel/index.html
Information for patients
Bowel cancer screening—the Facts www.cancerscreening.nhs.uk
Colorectal cancer
Lifetime risk of developing colorectal cancer is 1:15 for ♀ and 1:19 for ♂. Colorectal cancer accounts for 14% of all cancers and 16,000 deaths/y in the UK. Two-thirds arise in the colon and a third in the rectum; 72% of tumours occur in patients >65y and >95% are adenocarcinomas.
Adenomatous polyps
Bowel cancers arise from polyps over many years. Polyps may be removed because of risk of malignant change. Follow-up surveillance with repeated colonoscopy may be necessary depending on the number of polyps and their size ( p. 397).
Protective and risk factors
Lifestyle factors
Obesity—↑ risk by 15% if overweight and 30% if obese
Dietary factors—diets with less red and processed meat, and more vegetables, fibre, fish, and milk are associated with ↓ risk (diet is thought to explain geographic variations)
Alcohol—↑ risk for heavy drinkers, especially if also low folate
Physical activity—↑ physical activity can ↓ risk by 30%
Medication history
HRT—risk ↓ by 20% if ever taken; ↓ by 30% if taking HRT currently
COC pill—risk ↓ by 18% if ever taken
Statins—risk is ↓ after 5y use
Aspirin—75mg od taken for >5y ↓ risk by 40%
Other medical history
History of gall bladder disease and/or cholecystectomy—50% ↑ in risk
Type 2 (non-insulin-dependent) diabetes—30% ↑ risk
UC or Crohn’s disease—↑ risk ( p. 414)
Family history
p. 396
Bowel cancer screening
p. 396
Presentation
May be found at bowel cancer screening. Clinical presentations depends on site involved:
Change in bowel habit: diarrhoea ± mucus, constipation or alternating diarrhoea and constipation, tenesmus
Intestinal obstruction: pain, distension, absolute constipation ± vomiting. May be an acute, sudden event (20% of patients not detected by screening present with an acute obstruction) or gradually evolve
Rectal bleeding: bright red rectal bleeding or +ve faecal occult blood test—60% rectal tumours. Rarely melaena if high tumour
Perforation: causing generalized peritonitis or into an adjacent viscus (e.g. bladder), resulting in a fistula
Spread: abdominal distension 2° to ascites, jaundice, rectal/pelvic pain
General effects: weight ↓, anorexia, anaemia, malaise
Examination and investigation
General examination—cachexia, jaundice, anaemia (check FBC)
Abdominal mass
Hepatomegaly
Ascites
Rectal examination—detects >75% of rectal tumours
Refer urgently (to be seen in <2wk) to a team specializing in lower GI malignancy.
with:
Right lower abdominal mass consistent with involvement of large bowel
A palpable rectal mass (intraluminal, not pelvic; a pelvic mass outside the bowel would warrant an urgent referral to a urologist)
Unexplained iron deficiency anaemia (Hb ≤11g/dL for ♂; ≤10g/dL for a non-menstruating ♀)
Reporting rectal bleeding with a change of bowel habit towards looser stools and/or ↑ stool frequency persisting ≥6wk.
with:
Rectal bleeding persisting for ≥6wk without a change in bowel habit and without anal symptoms
Change in bowel habit to looser stools and/or more frequent stools persisting for ≥6wk without rectal bleeding
In a patient with equivocal symptoms who is not unduly anxious, it is reasonable to ‘treat, watch, and wait’.
Specialist management
Confirmation of diagnosis with sigmoidoscopy/colonoscopy and/or CT colonography. If diagnosis is confirmed further investigations include LFTs, tumour markers (carcino-embryonic antigen or CEA is produced in >80% advanced tumours), CXR, CT/MRI, and USS to evaluate spread.
Treatment
Laparoscopic or open surgical resection when possible. Staging based on findings at surgery dictates further management with chemotherapy. For patients with more advanced disease, resection or radioablation of hepatic metastases may be an option.
| Adverse clinical features | Adverse pathological features |
|---|---|
• Presence/number of involved LNs • Lymphovascular, perineural, or venous invasion • Depth of bowel wall penetration • Positive resection margin • Mucinous histology | • Emergency presentation with bowel obstruction or perforation • Incomplete resection • Metastatic disease • Presentation aged <50y |
| Adverse clinical features | Adverse pathological features |
|---|---|
• Presence/number of involved LNs • Lymphovascular, perineural, or venous invasion • Depth of bowel wall penetration • Positive resection margin • Mucinous histology | • Emergency presentation with bowel obstruction or perforation • Incomplete resection • Metastatic disease • Presentation aged <50y |
Further information
NICE www.nice.org.uk
Colorectal cancer (2011)
SIGN Diagnosis and management of colorectal cancer (2011) www.sign.ac.uk
Patient advice and support
Cancer Research UK 
0808 800 4040 www.cancerhelp.org.uk
Macmillan Cancer Support 0808 808 0000 www.macmillan.org.uk
British Colostomy Association 0800 328 4257 www.colostomyassociation.org.uk
Other large bowel conditions
Intestinal obstruction
Blockage of the bowel due to either mechanical obstruction or failure of peristalsis (ileus). Causes:
Obstruction from outside the bowel Adhesions/bands; volvulus; obstructed hernia ( p. 392); neighbouring malignancy (e.g. bladder)
Obstruction from within the bowel wall Tumour; infarction; congenital atresia; Hirschprung’s disease; inflammatory bowel disease ( p. 414); diverticulitis
Obstruction in the lumen Impacted faeces/constipation ( p. 378); bolus obstruction (e.g. swallowed foreign body); gallstone ileus; intussusception; large polyps
Ileus/functional obstruction Post-op; electrolyte disturbance; uraemia; DM; back pain; anticholinergic drugs
Presentation
Anorexia; nausea; vomiting (may be faeculent) gives relief; colicky central abdominal pain and distension; absolute constipation for stool and gas (though if high obstruction constipation may not be absolute). Examination: uncomfortable and restless; abdominal distension ± tenderness (though no guarding/rebound); active tinkling bowel sounds or quiet/absent bowel sounds (later).
Management
Admit as surgical emergency.
Diverticulosis
Common condition of the colon associated with muscle hypertrophy and ↑ intraluminal pressure. Mucosa-lined pouches are pushed out through the colonic wall usually at the entry points of vessels. These pouches are the diverticula; 95% are in the sigmoid colon although they may occur anywhere in the bowel. They are present in >1:3 people >60y in the UK. Risk factors include low-roughage diet and age. Diverticular disease implies the diverticula are symptomatic—see Table 13.9.
| Presentation | Management | |
|---|---|---|
Chronic diverticulitis (painful diverticular disease) | Presents with altered bowel habit, abdominal pain (often colicky and left-sided), nausea, and flatulence. Symptoms are often improved by defecation | Investigate for change in bowel habit ( Once diverticular disease is confirmed, treat with high-fibre diet ± antispasmodics (e.g. mebeverine 135mg tds) Refer if severe symptoms |
Acute diverticulitis | Presents with: • Altered bowel habit • Colicky left-sided abdominal pain—may become continuous and cause guarding/peritonism in the left iliac fossa • Fever • Malaise ± nausea • Flatulence
| Treat with oral antibiotics (e.g. co-amoxiclav 250mg tds or cefaclor 250–500mg tds and metronidazole 400mg bd or ciprofloxacin 500–750mg bd) There may also be some benefit from a low-residue diet If severe symptoms, uncertain diagnosis, or not settling, admit as an acute surgical emergency |
Diverticular abscess | Presents with swinging fever, general malaise ± other localizing symptoms, e.g. pelvic pain | Refer for urgent surgical assessment/admit as a surgical emergency |
Perforated diverticulum | Presents with ileus, peritonitis and shock | Admit as an acute surgical emergency |
Fistula formation | A fistula may form if a diverticulum perforates into bladder, ‘vagina’ or small bowel— | Refer for surgical assessment Treatment is usually surgical |
Haemorrhage from a diverticulum | Common cause of rectal bleeding—usually sudden and painless. | Gain IV access Admit as an acute surgical emergency ( |
Post-infective stricture | Fibrous tissue formation following infection can cause narrowing of the colon → obstruction | Keep stool soft If recurrent problems, refer for surgery |
| Presentation | Management | |
|---|---|---|
Chronic diverticulitis (painful diverticular disease) | Presents with altered bowel habit, abdominal pain (often colicky and left-sided), nausea, and flatulence. Symptoms are often improved by defecation | Investigate for change in bowel habit ( Once diverticular disease is confirmed, treat with high-fibre diet ± antispasmodics (e.g. mebeverine 135mg tds) Refer if severe symptoms |
Acute diverticulitis | Presents with: • Altered bowel habit • Colicky left-sided abdominal pain—may become continuous and cause guarding/peritonism in the left iliac fossa • Fever • Malaise ± nausea • Flatulence
| Treat with oral antibiotics (e.g. co-amoxiclav 250mg tds or cefaclor 250–500mg tds and metronidazole 400mg bd or ciprofloxacin 500–750mg bd) There may also be some benefit from a low-residue diet If severe symptoms, uncertain diagnosis, or not settling, admit as an acute surgical emergency |
Diverticular abscess | Presents with swinging fever, general malaise ± other localizing symptoms, e.g. pelvic pain | Refer for urgent surgical assessment/admit as a surgical emergency |
Perforated diverticulum | Presents with ileus, peritonitis and shock | Admit as an acute surgical emergency |
Fistula formation | A fistula may form if a diverticulum perforates into bladder, ‘vagina’ or small bowel— | Refer for surgical assessment Treatment is usually surgical |
Haemorrhage from a diverticulum | Common cause of rectal bleeding—usually sudden and painless. | Gain IV access Admit as an acute surgical emergency ( |
Post-infective stricture | Fibrous tissue formation following infection can cause narrowing of the colon → obstruction | Keep stool soft If recurrent problems, refer for surgery |
Ischaemic bowel
Interruption of the blood supply of the bowel.
1° ischaemia: usually due to either mesenteric embolus from the right side of the heart, or venous thrombosis and typically occurs in elderly patients who might have pre-existing heart or vascular disease
2° ischaemia: usually due to intestinal obstruction (e.g. strangulated hernia, volvulus, intussusception)
Presentation
Sudden onset of abdominal pain which rapidly becomes severe. There may be a prior history of pain worse after meals (mesenteric angina). Rarely presents with PR bleeding. Examination: very unwell; shocked; may be in AF; generalized tenderness but normally no guarding/rebound. Often signs are out of proportion to symptoms.
Management
Give opioid analgesia. Admit as surgical emergency.
Sigmoid volvulus
Occurs in people who have redundant colon on a long mesentery with a narrow base. The sigmoid loop twists, causing intestinal obstruction. The loop may become ischaemic. Risk factors: constipation, laxatives, tranquillizers. Presents with acute onset of abdominal distension and colicky abdominal pain with complete constipation and absence of flatus. There may be a history of repeated attacks.
Management
Admit acutely to hospital. Treatment is release by passing a flatus tube and/or surgery. Once treated, ↓ recurrences by preventing constipation and stopping tranquillizers if possible.
Hirschprung’s disease Caused by absence of the ganglion cells of the myenteric plexus in the distal bowel. Presents with delay in passing meconium, abdominal distension, vomiting, and poor feeding in a neonate. If only a short segment is affected, presentation may be much later with chronic constipation. Diagnosis is confirmed with rectal biopsy. Refer to surgery. Treatment is surgical removal of the affected area of bowel.
H. Hirschprung (1830–1916)—Danish paediatrician.
Carcinoma of the colon
p. 398
Anal conditions
p. 402
Inflammatory bowel disease
p. 414
Anal and perianal problems
Haemorrhoids (‘piles’)
Common in all age groups from mid-teens onwards. Represent distension of the submuscosal plexus of veins in the anus. Three main groups situated at 3, 7, and 11 o’clock positions (relative to the patient viewed in lithotomy position). Risk factors: constipation; FH; varicose veins; pregnancy; ↑ anal tone (cause not understood); pelvic tumour; portal hypertension. Classification:
1st degree Piles remain within the anal canal
2nd degree Prolapse out of anal verge but spontaneously reduce
3rd degree Prolapse out of anus and require digital reduction
4th degree Permanently prolapsed
Presentation
Discomfort or discharge ± fresh red rectal bleeding (blood on toilet paper, coating stool, or dripping into pan after defecation); feeling of incomplete emptying of the rectum; mucus discharge; pruritus ani. Rectal examination: prolapsing piles are obvious, 1st degree piles are not visible or palpable.
Management
If piles are not obvious on examination, arrange proctoscopy ± sigmoidoscopy for all patients >40y. Treatment: soften stool (bran, ispaghula husk) and recommend topical analgesia (e.g. lidocaine 5% ointment or OTC preparation). If not responding to treatment, uncertainty over diagnosis, or severe symptoms (e.g. soiling of underwear), refer for surgical assessment. Complications:
Strangulation Circulation to the pile is obstructed by the anal sphincter. Results in intense pain + anal sphincter spasm. Treat with analgesia. If severe pain or symptoms are not settling, admit
Thrombosis Pain/anal sphincter spasm—analgesia, ice packs, and bed rest; consider referral for surgery to prevent recurrence
Perianal haematoma (thrombosed external pile)
Due to a ruptured superficial perianal vein causing a subcutaneous haematoma. Presents with sudden onset of severe perianal pain. A tender, 2–4mm ‘dark blueberry’ under the skin adjacent to the anus is visible. Give analgesia. Settles spontaneously over ∼1wk. If <1d old can be evacuated via a small incision under LA.
Rectal prolapse
Occurs in 2 age groups—the very young and those >60y. Presents with mass coming down through the anus ± anal discharge. In adults there are 2 types:
Mucosal Adults with 3rd degree piles—bowel musculature remains in position but redundant mucosa prolapses from the anal canal
Complete Descent of the upper rectum into the lower anal canal. Usually due to weak pelvic floor from childbirth. Bowel wall is inverted and passed out through the anus. May be associated uterine prolapse
Refer for surgery. A supporting ring may be used if unfit for surgery.
Anal fissure
The anal mucosa is torn—usually on the posterior aspect of the anal canal. May occur at any age. Presents with pain on defecation ± constipation ± fresh rectal bleeding (‘blood on toilet paper’). The fissure is often visible as is a ‘sentinel pile’ (bunched up mucosa at the base of the tear). Rectal examination is very tender due to muscle spasm.
Management
Soften stool (e.g. ispaghula husk); try analgesic suppositories (e.g. 5% lidocaine ointment; OTC haemorrhoid preparations). If unsuccessful add glyceryl trinitrate 0.4% ointment bd which relieves pain and spasm but may cause headache; 2% topical diltiazem cream bd is a third-line option (unlicensed). If interventions fail refer to surgeon.
Perianal abscess
Usually caused by infection arising in a perianal gland. Tends to lie between the internal and external sphincters and points towards the skin at the anal margin. May affect patients of any age and presents with gradual onset of perianal pain which becomes throbbing and severe; defecation and sitting are painful—characteristically patients sit with one buttock raised off the chair. Examination: abscess in the skin next to the anus. Refer as an acute surgical emergency for drainage.
Perianal fistula
Abnormal connection between the lumen of the anus (or rectum) and skin. Usually develops from a perianal abscess. Fistulae are either ‘high’ (open into the bowel above the deep external anal sphincter) or ‘low’ (open into the bowel below this point). High fistulae are rare and usually due to UC, Crohn’s disease, or tumour—they are more complex to repair. Presents with persistent perianal discharge and/or recurrent abscess. The external opening is usually visible lateral to the anus; the internal opening may be palpable on rectal examination. Refer for surgical repair.
Pilonidal sinus
Obstruction of a hair follicle in the natal cleft. The ingrowing hair triggers a foreign body reaction → pain, swelling, abscess, and/or fistula formation ± foul-smelling discharge. Refer for surgery.
Pruritus ani
Itching around the anus. Occurs if the anus is moist or soiled, e.g. poor personal hygiene; anal leakage or faecal incontinence; fissures; nylon/tight underwear. Other causes: dermatological conditions (e.g. contact dermatitis, lichen sclerosus); threadworm infection; anxiety; other causes of generalized pruritus ( p. 594). Treat cause if possible; avoid spicy food; moist wipe post-defecation.
Anal ulcers
Rare. Consider Crohn’s disease, syphilis, tumour.
Threadworm Common in the UK—especially in children. Enterobius vermicularis causes anal itch, as it leaves the bowel to lay eggs on the perineum. Often seen as silvery thread-like worms at the anus of children. Treatment: mebendazole (available OTC). Treat household contacts as well as the index case.
Anal cancer
Usually squamous cell cancer (>50%). Risk factors: anal sex; syphilis; anal warts (HPV). Presents with bleeding, pain, anal mass or ulcer, pruritus, stricture, change in bowel habit. A mass may be palpable on rectal examination. Check for inguinal LNs.
Management
Refer for urgent surgical review and confirmation of diagnosis. Treatment is usually with a combination of radiotherapy ± chemotherapy. Abdominoperineal resection is reserved for salvage therapy after chemo- or radiotherapy failure.
Patients with ostomies
Specialist stoma nurses are an extremely useful source of advice and help. If in doubt about the correct stoma appliances and accessories to supply or a patient has a problem with a stoma, wherever possible liaise with your local specialist stoma nurse.
The first iatrogenic stoma was constructed in France in 1776 for an obstructing rectal cancer. Stomas (from the Greek meaning ‘mouth’) may be temporary or permanent (see Table 13.10).
| Colostomy | Ileostomy | Urostomy |
|---|---|---|
Age Most >50y | Peak age range 10–50y | Age Most >50y |
Output Depends on site: • Transverse colostomy—soft stool • Descending/sigmoid colostomy—formed stool | Output Soft/fluid stool | Output Urine—continent procedures using bowel to fashion a bladder which is then drained with a catheter through the stoma are becoming common |
Reasons for colostomy Carcinoma Diverticular disease Trauma Radiation enteritis Bowel ischaemia Hirschprung’s disease Congenital abnormalities Obstruction Crohn’s disease Faecal incontinence | Reasons for ileostomy Ulcerative colitis Crohn’s disease Familial polyposis coli Obstruction Radiation enteritis Trauma Bowel ischaemia Meconium ileus Carcinoma | Reasons for urostomy Carcinoma Urinary incontinence Fistulas Spinal column disorders |
| Colostomy | Ileostomy | Urostomy |
|---|---|---|
Age Most >50y | Peak age range 10–50y | Age Most >50y |
Output Depends on site: • Transverse colostomy—soft stool • Descending/sigmoid colostomy—formed stool | Output Soft/fluid stool | Output Urine—continent procedures using bowel to fashion a bladder which is then drained with a catheter through the stoma are becoming common |
Reasons for colostomy Carcinoma Diverticular disease Trauma Radiation enteritis Bowel ischaemia Hirschprung’s disease Congenital abnormalities Obstruction Crohn’s disease Faecal incontinence | Reasons for ileostomy Ulcerative colitis Crohn’s disease Familial polyposis coli Obstruction Radiation enteritis Trauma Bowel ischaemia Meconium ileus Carcinoma | Reasons for urostomy Carcinoma Urinary incontinence Fistulas Spinal column disorders |
Stoma retraction
can → leakage and severe skin problems. Most common reason for re-operation. Refer for specialist advice.
Prolapse
Seen most frequently with loop colostomy. If persists and disrupts pouching, refer for consideration of revision.
Peristomal hernia
Common complication. Symptomatic cases require referral for repair.
Stenosis
Narrowing of the stoma may result in difficulty or pain passing stool and/or obstruction. If problematic refer for revision.
Skin complications
Skin irritation can be due to:
Leakage onto the skin
Allergic reactions to the adhesive material in a skin barrier
Fungal infection, or
Inadequate hygiene
Prevention of skin complications
Advise patients to clean, rinse, and pat the skin dry between pouch changes
Avoid using an oily soap, which can leave a film that interferes with proper adhesion of the skin barrier
Ensure the pouch system fits
Treat any infection with oral antibiotics and/or oral or topical antifungals
Apply skin barrier cream
If the skin is uneven (e.g. due to scarring), fill irregularities with stoma paste to give a better fit
Consider the use of convex discs or stoma belts (refer to specialist stoma nurse for advice)
Drugs
Enteric-coated and modified-release preparations are unsuitable for people with bowel stomas—particularly for patients with ileostomy.
Diet
Avoid foods that cause intestinal upset or diarrhoea
For descending/sigmoid colostomy, avoid foods that cause constipation. If constipation does occur, ↑ fluid intake and/or dietary fibre
Certain foods, e.g. beans, cucumbers, and carbonated drinks, can cause gas, along with certain habits such as talking or swallowing air while eating, using a straw, breathing through the mouth, and chewing gum
A daily portion of apple sauce, cranberry juice, yogurt, or buttermilk can help control odour. If odour is strong and persistent, consider use of charcoal filters or pouch deodorizers (seek advice from a specialist stoma nurse)
Psychosocial problems
Self-help groups provide information and tips on lifestyle and stoma care; specialist stoma nurses can provide support and counselling.
Activities
Advise patients to avoid rough contact sports and heavy lifting as these might → herniation around the stoma. Patients with stomas may swim. Water will not enter a stoma due to peristalsis so stomas do not need to be covered when bathing. A body belt (available on FP10) to hold the stoma bag in place against the body may stop rustling/leakage for those doing aerobic exercise—seek advice from a specialist stoma nurse.
Travel
Advise patients to pack sufficient supplies of their stoma products and carry supplies with them in case baggage is misplaced. Avoid storing supplies in a very hot environment as heat may damage pouches.
Patient advice and support
British Colostomy Association 0800 328 4257 www.colostomyassociation.org.uk
Chronic diarrhoea and malabsorption
Chronic diarrhoea
Diarrhoea persisting >4wk. Patients’ perceptions of diarrhoea vary widely. Clarify what is meant. Chronic diarrhoea affects ∼4–5% of adults in the UK. There are many causes (see Table 13.11), and all patients require investigation. Careful history is vital.
Colon Colonic cancer Ulcerative colitis Crohn’s disease Constipation with overflow diarrhoea Endocrine DM (autonomic neuropathy) Hyperthyroidism Hypoparathyroidism Addison’s disease Hormone-secreting tumours, e.g. carcinoid | Small bowel Crohn’s disease Coeliac disease Other enteropathies, e.g. Whipple’s disease Bile acid malabsorption Ischaemia Enzyme deficiencies, e.g. lactase deficiency Radiation damage Bacterial overgrowth Lymphoma Infection (e.g. giardiasis, Cryptosporidium) Irritable bowel syndrome | Pancreas Pancreatic cancer Chronic pancreatitis CF Other Bowel resection Bile salt malabsorption Intestinal fistula Drugs Alcohol Autonomic neuropathy ‘Factitious’ diarrhoea |
Colon Colonic cancer Ulcerative colitis Crohn’s disease Constipation with overflow diarrhoea Endocrine DM (autonomic neuropathy) Hyperthyroidism Hypoparathyroidism Addison’s disease Hormone-secreting tumours, e.g. carcinoid | Small bowel Crohn’s disease Coeliac disease Other enteropathies, e.g. Whipple’s disease Bile acid malabsorption Ischaemia Enzyme deficiencies, e.g. lactase deficiency Radiation damage Bacterial overgrowth Lymphoma Infection (e.g. giardiasis, Cryptosporidium) Irritable bowel syndrome | Pancreas Pancreatic cancer Chronic pancreatitis CF Other Bowel resection Bile salt malabsorption Intestinal fistula Drugs Alcohol Autonomic neuropathy ‘Factitious’ diarrhoea |
Symptoms suggestive of organic disease
History of <3mo duration
Mainly nocturnal or continuous (as opposed to intermittent) diarrhoea
Significant weight ↓
Liquid stools with blood and/or mucus
Symptoms suggestive of malabsorption
Pale and/or offensive stools
Steatorrhoea—excess fat in faeces. The stool is pale-coloured and foul-smelling and floats (‘difficult to flush’)
Examination and investigation
Full examination. Look for signs of systemic disease and examine abdomen thoroughly. Check:
Blood: FBC, ESR, Ca2+, LFTs, haematinics, TFTs, coeliac serology
Stool: M,C&S
Management
If obvious identifiable cause, e.g. GI infection, constipation, drug side effect, then treat and review. Refer to gastroenterology if treatment does not relieve symptoms
If symptoms suggestive of functional bowel disease and <45y with normal investigations, irritable bowel syndrome is likely. Reassure, offer advice, and review as necessary. Refer to gastroenterology if atypical symptoms appear or the patient is unhappy with the diagnosis
Otherwise refer to gastroenterology for assessment. Speed of referral depends on age and severity of symptoms
Refer urgently to a team specializing in lower GI malignancy if:
with:
Right lower abdominal mass consistent with involvement of large bowel
A palpable rectal mass (intraluminal, not pelvic; a pelvic mass outside the bowel would warrant an urgent referral to a urologist)
Unexplained iron deficiency anaemia (Hb ≤11g/dL for ♂; ≤10g/dL for a non-menstruating ♀)
Reporting rectal bleeding with a change of bowel habit towards looser stools and/or increased stool frequency persisting ≥6wk.
with:
Rectal bleeding persisting for ≥6wk without a change in bowel habit and without anal symptoms
Change in bowel habit to looser stools and/or more frequent stools persisting for ≥6 wk without rectal bleeding
In a patient with equivocal symptoms who is not unduly anxious, it is reasonable to ‘treat, watch and wait’.
Malabsorption
Presents with chronic diarrhoea, weight ↓, steatorrhoea, vitamin/iron deficiencies, and/or oedema due to protein deficiency. Refer to gastroenterology for investigation/treatment of the cause.
Usual causes
Rarer causes
CF
Pancreatic cancer— p. 432
Whipple’s disease
Biliary insufficiency
Bacterial overgrowth
Chronic infection (e.g. giardiasis, tropical sprue)
Following gastric surgery
Whipple’s disease
A cause of malabsorption which usually occurs in ♂ >50 y. Other features: arthralgia, pigmentation, weight ↓, lymphadenopathy, ± cerebellar or cardiac signs. Cause: Tropheryma whippelii. Refer for gastroenterology assessment. Jejunal biopsy is characteristic. Treatment: long-term broad-spectrum antibiotics.
Malabsorption in children
p. 888
Factitious diarrhoea
Responsible for 4% referrals to gastroenterology departments and 20% of tertiary referrals. Due to laxative abuse or adding of water or urine to stool samples. Difficult to spot—have a high index of suspicion especially in patients with history of eating disorder or somatization.
Further information
British Society of Gastroenterology Guidelines for the investigation of chronic diarrhoea (2003) www.bsg.org.uk
NICE www.nice.org.uk
Faecal incontinence
Affects ∼2% of all ages, causing great personal disability. It is a common reason for carers to request placement in a nursing home.
Causes
Age and frailty
Constipation (overflow incontinence)
Childbirth
Colonic resection/anal surgery
Rectal prolapse/haemorrhoids
Loose stools or diarrhoea from any cause, e.g. inflammatory bowel disease
After radiotherapy
Systemic sclerosis
Neurological disorders
Cognitive deficit
Congenital disorders (e.g. anal atresia, Hirschprung’s disease)
Emotional problems, e.g. encoparesis in children
History
Aimed at establishing the underlying causes of the incontinence (may be >1) and other factors that might be contributing to it. Ask about:
Onset and nature of symptoms Always consider faecal incontinence when patients present with anal soreness and/or itching
Bowel habit including timing and frequency of incontinence
Difficulties with toileting and help available
Other medical conditions
Medication
Diet
Social circumstances
Persistent change in bowel habit to looser stools may be a sign of GI malignancy— p. 399.
Examination
General and rectal examination (to detect abnormalities of anal tone, local anal pathology, e.g. rectal prolapse, and constipation causing overflow incontinence). Further examination depends on age group and history, e.g. cognitive assessment if suspected cognitive deficit; neurological examination if ↓ anal tone.
Primary care management
Treatment of cause
Clear any constipation/faecal loading ( p. 378)—use rectal preparations initially to clear faecal load. If unsuccessful/rectal preparations are inappropriate, then switch to oral laxatives. Take steps to prevent recurrence, e.g. add fibre to diet, ↑ fluid intake, consider regular laxatives
Treat other reversible causes, e.g. infective diarrhoea, UC
Consider alternatives to any contributing medications, e.g. tranquillizers
General measures where cause cannot be treated
Advise fluid intake of at least 1.5L/d
Encourage bowel emptying after a meal—advise patients to assume a seated/squatting position and not to strain
Ensure that toilet facilities are private, accessible, and safe—refer for OT assessment if needed
Manipulate diet to promote optimal stool consistency and predictable bowel emptying. A food/fluid diary may be helpful. Only change one food at a time. Consider referral to a dietician
If stool must be in the rectum at a set time (e.g. when a carer is there), manipulate bowel action with pr/po laxatives and/or loperamide
If loose stools, consider treatment with loperamide, co-phenotrope, or codeine phosphate, prn or continuously. When using loperamide, introduce at a very low dose (consider syrup for doses <2mg) and ↑ dose until desired stool consistency is reached. Dose and/or frequency can be adjusted ↑ or ↓ in response to stool consistency and lifestyle Do not use if hard stools, undiagnosed diarrhoea, or flare-up of UC
Review regularly. If no improvement with simple strategies, consider referral for specialist care
Patients with faecal incontinence from enteral feeding
Discuss with the patient’s dietician. Modifying type/timing of feeds may help.
Patients with spinal injury or disease
Bowel function is a reflex action which we learn to override as children. If the lesion is above the level of this reflex pathway (T12 for bowel function) then automatic emptying will still occur when the bladder or bowel is full, although there is no control. If the lesion is below this level there is no emptying reflex. Bowel care programmes reflect this. Useful leaflets are available from the spinal injuries association ( 0800 980 0501 www.spinal.co.uk).
Referral
Consider if symptoms are not controlled:
To continence adviser—for advice on skin care/hygiene and supplies of incontinence pads. Pelvic floor muscle training, bowel retraining, biofeedback, electrical stimulation, and/or rectal irrigation may be useful. Devices e.g. anal plugs or faecal collectors can help in some situations
To surgeon—for sphincter repair if significant sphincter defect; for consideration of implanted sacral nerve stimulation device; for appendicostomy/continent colonic conduit for anterograde irrigation in patients with colonic motility disorders; for stoma formation (last resort)
To old age psychiatry—if cognitive deficit and incontinence
To paediatrics—if encoparesis due to chronic constipation, or child psychiatry if encoparesis due to emotional distress
Encopresis in children
p. 915
Further information
NICE Faecal incontinence (2007) www.nice.org.uk
Patient information
Bladder and Bowel Foundation Provides information and support as well as ‘Just can’t wait’ or JCW cards. This card allows patients with bowel problems access to staff toilet facilities in many high street stores on production of their access card. 0845 345 0165 www.bladderandbowelfoundation.org
RADAR Keys The National Key Scheme (NKS) offers independent access to disabled people to around 7,000 locked public toilets around the country. Keys are available to purchase from www.radar-shop.org.uk. If the patient has an ongoing disability, purchase can be made VAT-free.
Gastroenteritis and food poisoning
Ingestion of viruses, bacteria, or their toxins commonly causes diarrhoea and/or vomiting (see Table 13.12). Suspected food poisoning is a notifiable disease.
| Organism/source | Incubation | Symptoms | Food | ||||
|---|---|---|---|---|---|---|---|
| D | V | P | F | O | |||
B. cereus | 1–5h | ✓ | ✓ | Rice | |||
Campylobacter | 48h–5d | ✓ | ✓ | ✓ | Blood in stool | Milk, poultry | |
C. botulinum | 12–36h | ✓ | Paralysis | Canned food | |||
C. perfringens | 6–24h | ✓ | ✓ | Meat | |||
E. coli | 12–72h | ✓ | ✓ | ✓ | Blood in stool | Food, water | |
Salmonella species | 12–48h | ✓ | ✓ | ✓ | ✓ | Meat, eggs, poultry | |
ShigellaND | 48–72h | ✓ | ✓ | ✓ | Blood in stool | Any food | |
Staph. aureus | 1–6h | ✓ | ✓ | ✓ | ↓ BP | Meat | |
V. para-haemolyticus | 12–24h | ✓ | ✓ | ✓ | Fish | ||
Y. enterocolitica | 24–36h | ✓ | ✓ | ✓ | Milk, water | ||
Giardia lamblia | 1–4wk | ✓ | Water | ||||
Entamoeba histolytica | 1–4wk | ✓ | ✓ | ✓ | Blood in stool | Food, water | |
Cryptosporidium | 4–12d | ✓ | ✓ | ✓ | Water | ||
Listeria | Flu-like illness, pneumonia, miscarriage | Milk products, pâtés, raw vegetables | |||||
Norovirus | 24–48h | ✓ | ✓ | ✓ | Malaise | Food, water | |
Rotavirus | 1–7d | ✓ | ✓ | ✓ | Malaise | Food, water | |
Mushrooms | 15min–24h | ✓ | ✓ | ✓ | Fits, coma, renal/liver failure | ||
Scrombrotoxin | 10–60min | ✓ | Flushes, erythema | Fish | |||
Heavy metals, e.g. zinc | 5min–2h | ✓ | ✓ | ||||
| Organism/source | Incubation | Symptoms | Food | ||||
|---|---|---|---|---|---|---|---|
| D | V | P | F | O | |||
B. cereus | 1–5h | ✓ | ✓ | Rice | |||
Campylobacter | 48h–5d | ✓ | ✓ | ✓ | Blood in stool | Milk, poultry | |
C. botulinum | 12–36h | ✓ | Paralysis | Canned food | |||
C. perfringens | 6–24h | ✓ | ✓ | Meat | |||
E. coli | 12–72h | ✓ | ✓ | ✓ | Blood in stool | Food, water | |
Salmonella species | 12–48h | ✓ | ✓ | ✓ | ✓ | Meat, eggs, poultry | |
ShigellaND | 48–72h | ✓ | ✓ | ✓ | Blood in stool | Any food | |
Staph. aureus | 1–6h | ✓ | ✓ | ✓ | ↓ BP | Meat | |
V. para-haemolyticus | 12–24h | ✓ | ✓ | ✓ | Fish | ||
Y. enterocolitica | 24–36h | ✓ | ✓ | ✓ | Milk, water | ||
Giardia lamblia | 1–4wk | ✓ | Water | ||||
Entamoeba histolytica | 1–4wk | ✓ | ✓ | ✓ | Blood in stool | Food, water | |
Cryptosporidium | 4–12d | ✓ | ✓ | ✓ | Water | ||
Listeria | Flu-like illness, pneumonia, miscarriage | Milk products, pâtés, raw vegetables | |||||
Norovirus | 24–48h | ✓ | ✓ | ✓ | Malaise | Food, water | |
Rotavirus | 1–7d | ✓ | ✓ | ✓ | Malaise | Food, water | |
Mushrooms | 15min–24h | ✓ | ✓ | ✓ | Fits, coma, renal/liver failure | ||
Scrombrotoxin | 10–60min | ✓ | Flushes, erythema | Fish | |||
Heavy metals, e.g. zinc | 5min–2h | ✓ | ✓ | ||||
D = diarrhoea; V = vomiting; P = abdominal pain; F = fever; O = other.
Prevention
Handwashing after using the toilet; longer cooking and rewarming times; prompt consumption of food.
Presentation
History Severity and duration of symptoms, food eaten and water drunk, time relationship between ingestion and symptoms, other affected contacts, recent foreign travel
Examination Usually normal. Dehydration may prompt admission
Investigation and management
Campylobacter
Most common bacterial cause of infectious diarrhoea in the UK. Two species (C. jejuni and C. coli) are responsible for most cases. Symptoms occur 2–5d after ingestion of infected food (usually milk or poultry). Malaise followed by abdominal pain and diarrhoea—often bloody. Rarely associated with arthritis. Usually clears spontaneously. If needed, treatment is with erythromycin or ciprofloxacin.
Salmonella
Common cause of infectious diarrhoea. Usually ingested in infected meat, poultry, or eggs. Symptoms: vomiting, diarrhoea, abdominal pain, and fever—develop from 12h–2d after ingestion. Rarely associated with arthritis 2–3 wk after acute infection. In <1%, a carrier state develops. Only use antibiotics on microbiologist advice.
Escherichia coli
Many different strains of E. coli cause diarrhoea via a variety of mechanisms. In most cases, treatment is supportive with fluid replacement. Rarely, for enterohaemorrhagic strains, antibiotics may be recommended, but use is controversial, as antibiotic treatment has been linked with haemolytic uraemic syndrome.
Cryptosporidium
Protozoan causing diarrhoeal disease. Infections are usually spread in water. Responsible for ∼5% of all gastroenteritis in both industrialized and developing countries. Presents with profuse watery diarrhoea, abdominal cramp ± nausea, anorexia, fever, and malaise. Treatment is supportive. Usually symptoms last 1–2wk (rarely >1mo). Immunocompromised patients develop profuse intractable diarrhoea which is difficult to clear and may continue intermittently for life.
Norovirus (‘winter vomiting virus’)
Most common cause of infectious gastroenteritis in the UK—particularly in communal settings, e.g. schools, hospitals. Illness is generally mild and lasts 2–3d. There are no long-term effects. Infections can occur at any age because immunity is not long-lasting. Scrupulous hygiene is needed to contain outbreaks.
Further information
Health Protection Agency (HPA) Infections: topics A–Z: gastrointestinal disease www.hpa.org.uk
Rotavirus Most common cause of gastroenteritis in children. Most are immune by 5y. Presents with malaise, abdominal pain, diarrhea, and vomiting. Common cause of hospital admission. Treatment is supportive. Babies in the UK are offered rotavirus vaccination within the childhood immunization programme ( p. 645)
Some children may become cow’s milk-intolerant after a bout of gastroenteritis— p. 889.
Coeliac disease
Gluten sensitivity results in inflammation of the bowel and malabsorption. Coeliac disease is a common disorder (UK prevalence 0.5–1%, ♀:♂ ≈3:1) although only a minority have recognized disease. Peak incidence in adults is in the fifth decade; in children at ∼4y. Associated with HLA-DQ2 or DQ8; first-degree relatives have a 1:10 chance of being affected.
Investigation
Serological testing With IgA anti-tissue transglutaminase antibodies (TTG) or anti-endomysial antibodies (EMA) if any symptoms/signs listed in Table 13.13. Consider testing if associated condition or genetic predisposition. Test only if the patient has eaten >1 meal/d containing gluten for ≥6wk
Other tests Also consider FBC, ESR/CRP, B12, folate, ferritin, LFTs, Ca2+, TFTs, and stool sample for M,C&S (if diarrhoea)
| Symptoms and signs | Associated conditions | |
|---|---|---|
Chronic/intermittent diarrhoea (50%) Failure to thrive/faltering growth in children Recurrent abdominal pain/cramping/bloating Other persistent unexplained GI symptoms, e.g. nausea/vomiting Sudden or unexpected weight ↓ Unexplained anaemia (iron deficiency or other) Genetic predisposition First-degree relative (parent, sibling, child) Down’s/Turner syndrome | GI Dental enamel defects Mouth ulcers Irritable bowel syndrome Microscopic colitis Persistent/unexplained constipation Unexplained, persistent ↑ in liver enzymes (usually normalize in <6mo on gluten-free diet) Autoimmune liver disease Musculoskeletal ↓ bone mineral density Low trauma fracture Metabolic bone disease (e.g. rickets, osteomalacia) Sjögren’s syndrome Sarcoidosis | Endocrine Type 1 DM Autoimmune thyroid disease Addison’s disease Amenorrhoea Other Unexplained alopecia Dermatitis herpetiformis Depression or bipolar disorder Polyneuropathy Epilepsy Autoimmune myocarditis Chronic TTP Lymphoma Recurrent miscarriage Unexplained subfertility |
| Symptoms and signs | Associated conditions | |
|---|---|---|
Chronic/intermittent diarrhoea (50%) Failure to thrive/faltering growth in children Recurrent abdominal pain/cramping/bloating Other persistent unexplained GI symptoms, e.g. nausea/vomiting Sudden or unexpected weight ↓ Unexplained anaemia (iron deficiency or other) Genetic predisposition First-degree relative (parent, sibling, child) Down’s/Turner syndrome | GI Dental enamel defects Mouth ulcers Irritable bowel syndrome Microscopic colitis Persistent/unexplained constipation Unexplained, persistent ↑ in liver enzymes (usually normalize in <6mo on gluten-free diet) Autoimmune liver disease Musculoskeletal ↓ bone mineral density Low trauma fracture Metabolic bone disease (e.g. rickets, osteomalacia) Sjögren’s syndrome Sarcoidosis | Endocrine Type 1 DM Autoimmune thyroid disease Addison’s disease Amenorrhoea Other Unexplained alopecia Dermatitis herpetiformis Depression or bipolar disorder Polyneuropathy Epilepsy Autoimmune myocarditis Chronic TTP Lymphoma Recurrent miscarriage Unexplained subfertility |
Selective IgA deficiency is more common amongst people with coeliac disease (2.6%) than the general population (0.4%). People who are IgA-deficient have false −ve results with IgA TTG/EMA testing. When there is strong clinical suspicion and coeliac serology is negative, check serum IgA levels; if deficient, request IgG TTG/EMA antibody testing.
Initial management
Refer for specialist review if:
+ve serology—duodenal biopsy showing villous atrophy is diagnostic
Strong clinical suspicion of coeliac disease but −ve serology
Unwilling to reintroduce gluten to diet to enable serological testing
Gluten-free diet
Is the cornerstone of the management of coeliac disease and should be followed life-long. Patients should avoid proteins derived from wheat, rye, or barley. 
Avoidance of oats is controversial. Refer to a dietician for specialist advice. Coeliac UK provides a directory of approved products as well as recipes for those on gluten-free diets.
Prescriptions for gluten-free foods
Prescribe adequate gluten-free foods (see Table 13.14), marking prescriptions ‘ACBS’. Add deficient nutrients, e.g. iron, folic acid, calcium until established on a gluten-free diet.
| Child age | Units/mo | ♂ age | Units/mo | ♀ age | Units/mo |
|---|---|---|---|---|---|
1–3y | 10 | 19–59y | 18 | 19–74y | 14 |
4–6y | 11 | 60–74y | 16 | 75+y | 12 |
7–10y | 13 | 75+y | 14 | Breastfeeding | Add 4 units |
11–14y | 15 | 3rd trimester pregnancy | Add 1 unit | ||
15–18y | 18 | High activity level (♂ or ♀)—add 4 units | |||
| Child age | Units/mo | ♂ age | Units/mo | ♀ age | Units/mo |
|---|---|---|---|---|---|
1–3y | 10 | 19–59y | 18 | 19–74y | 14 |
4–6y | 11 | 60–74y | 16 | 75+y | 12 |
7–10y | 13 | 75+y | 14 | Breastfeeding | Add 4 units |
11–14y | 15 | 3rd trimester pregnancy | Add 1 unit | ||
15–18y | 18 | High activity level (♂ or ♀)—add 4 units | |||
400g of bread or rolls or baguette = 1 unit
500g of bread or flour = 2 units
250g of pasta = 1 unit
2 pizza bases = 1 unit
200g of sweet or savoury biscuits, crackers, or crispbread = 1 unit
Failure to respond to diet
The most common reason is continued ingestion of gluten (intentional or inadvertent). Re-refer to dieticians. If symptoms recur after a period of remission, re-refer for specialist review.
Pneumococcal vaccination
Pneumococcal infection is more common 2° to hyposplensim—advise vaccination.
Follow-up
Every 6–12mo in a specialist clinic or by a GP under shared care arrangements. Routine checks include: symptoms, weight, and blood tests (Hb, B12, folate, iron, albumin, Ca2+, TTG or EMA antibodies).
Long-term complications
Are almost eliminated by strict diet:
Osteoporosis—consider DEXA scan at diagnosis, after 3y on a gluten-free diet (if abnormal baseline DEXA), at menopause for ♀, aged 55y for ♂, or if fragility fractureG
Malignancy—lymphoma or carcinoma of the small intestine. Rare—if suspected, refer urgently for specialist review
Further information
NICE Recognition and assessment of coeliac disease (2009) www.nice.org.uk
British Society of Gastroenterology The management of adults with coeliac disease (2010) www.bsg.org.uk
Patient advice and support
Coeliac UK 0845 305 2060 www.coeliac.co.uk
Inflammatory bowel disease
Ulcerative colitis (UC) and Crohn’s disease (B.B. Crohn (1884–1983)—US gastroenterologist) are collectively termed inflammatory bowel disease. Both are chronic, relapsing-remitting diseases characterized by acute, non-infectious inflammation of the gut. In UC, inflammation is limited to the colorectal mucosa. Extent varies from disease limited to the rectum (proctitis) to disease affecting the whole colon (pancolitis). In Crohn’s, any part of the gut from mouth to anus can be affected with normal bowel between affected areas (skip lesions).
Cause
Unknown. Both diseases are thought to result from an environmental trigger on genetically susceptible individuals. Factors implicated (none proven) include:
Smoking—protective against UC (95% are non-smokers or ex-smokers) but a causative factor in Crohn’s disease (two-thirds are smokers, and smoking cessation halves the relapse rate)
Gut flora or other infections, e.g. Mycobacterium paratuberculosis
Food constituents
Features
See Table 13.16.
| UC | Crohn’s disease | |
|---|---|---|
Incidence | 10–20/100,000/y | 5–10/100,000/y and increasing |
Prevalence | 100–200/100,000 | 50–100/100,000 |
Peak age | 40–60y (85% <60y) | |
Gender | ♂ = ♀ | |
Risk factors | Smoking is protective | Smoking is a risk factor |
GI symptoms | Diarrhoea + blood/mucus (stool may be solid if rectal disease only) Faecal urgency/incontinence Tenesmus Lower abdominal pain | Diarrhoea ± blood/mucus Malabsorption Abdominal pain (crampy) Mouth ulcers Bowel obstruction due to strictures Fistulae (often perianal) Abscesses (perianal and intra-abdominal) |
Systemic symptoms | Tiredness and/or malaise Weight ↓ or failure to thrive/grow (children) Fever | |
Associated conditions | Joint disease—arthritis, sacroiliitis, ankylosing spondylitis Eye disease—iritis or uveitis Skin changes—erythema nodosum, pyoderma gangrenosum (UC > Crohn’s) Liver disease—autoimmune hepatitis (UC), gallstones (Crohn’s), sclerosing cholangitis (UC > Crohn’s) Miscellaneous—thromboembolism, osteoporosis (Crohn’s); amyloidosis (Crohn’s) | |
Examination | Abdominal + rectal examination—abdominal tenderness. Anal and perianal lesions (pendulous skin tags, abscesses, fistulae) and/or mass in the right iliac fossa are characteristic of Crohn’s disease General examination—clubbing, aphthous ulcers in the mouth (Crohn’s), signs of weight loss, anaemia, or hypoproteinaemia | |
Investigation | Blood: FBC (anaemia, ↑ WCC), ESR (↑ when disease is active), eGFR, LFTs (including serum albumin). In severe UC, CRP >45g/dL after 3d steroid treatment indicates high (∼85%) risk for colectomy. Stool: M,C&S (including C. difficile) to exclude infection AXR: consider to clarify extent of disease, exclude toxic megacolon (transverse colon diameter >5cm) or bowel obstruction, and/or identify proximal constipation Proctoscopy: inflammation and shallow ulceration extending proximally from the anal margin suggests UC | |
| UC | Crohn’s disease | |
|---|---|---|
Incidence | 10–20/100,000/y | 5–10/100,000/y and increasing |
Prevalence | 100–200/100,000 | 50–100/100,000 |
Peak age | 40–60y (85% <60y) | |
Gender | ♂ = ♀ | |
Risk factors | Smoking is protective | Smoking is a risk factor |
GI symptoms | Diarrhoea + blood/mucus (stool may be solid if rectal disease only) Faecal urgency/incontinence Tenesmus Lower abdominal pain | Diarrhoea ± blood/mucus Malabsorption Abdominal pain (crampy) Mouth ulcers Bowel obstruction due to strictures Fistulae (often perianal) Abscesses (perianal and intra-abdominal) |
Systemic symptoms | Tiredness and/or malaise Weight ↓ or failure to thrive/grow (children) Fever | |
Associated conditions | Joint disease—arthritis, sacroiliitis, ankylosing spondylitis Eye disease—iritis or uveitis Skin changes—erythema nodosum, pyoderma gangrenosum (UC > Crohn’s) Liver disease—autoimmune hepatitis (UC), gallstones (Crohn’s), sclerosing cholangitis (UC > Crohn’s) Miscellaneous—thromboembolism, osteoporosis (Crohn’s); amyloidosis (Crohn’s) | |
Examination | Abdominal + rectal examination—abdominal tenderness. Anal and perianal lesions (pendulous skin tags, abscesses, fistulae) and/or mass in the right iliac fossa are characteristic of Crohn’s disease General examination—clubbing, aphthous ulcers in the mouth (Crohn’s), signs of weight loss, anaemia, or hypoproteinaemia | |
Investigation | Blood: FBC (anaemia, ↑ WCC), ESR (↑ when disease is active), eGFR, LFTs (including serum albumin). In severe UC, CRP >45g/dL after 3d steroid treatment indicates high (∼85%) risk for colectomy. Stool: M,C&S (including C. difficile) to exclude infection AXR: consider to clarify extent of disease, exclude toxic megacolon (transverse colon diameter >5cm) or bowel obstruction, and/or identify proximal constipation Proctoscopy: inflammation and shallow ulceration extending proximally from the anal margin suggests UC | |
Differential diagnosis
Irritable bowel syndrome
Coeliac disease
Anal fissure
Gut infection, e.g. giardiasis
Diverticulitis
Colonic tumour
Food sensitive colitis (infants)
Pseudomembranous colitis
Ischaemic colitis
Microscopic colitis
Suspected diagnosis
∼50% of severe attacks of UC are first attacks in patients who do not have a prior diagnosis. If bloody diarrhoea + fever >37.5°C or tachycardia >90bpm, admit as an acute emergency. If persistent, unexplained diarrhoea lasting >4wk and/or persistent abdominal pain, refer for urgent further investigation to exclude GI malignancy and establish diagnosis.
UC and Crohn’s disease are rare in childhood. Presentation is variable and can be with non-specific features (e.g. failure to thrive), GI symptoms (e.g. malabsorption, bloody diarrhoea, acute abdomen) or complications (e.g. arthropathy or iritis). If suspected refer for confirmation of diagnosis and specialist management.
Management of ulcerative colitis
See BNF 1.5.
Assessing severity
| Severity | Symptoms |
|---|---|
Mild | <4 liquid stools/d Little/no rectal bleeding No signs of systemic disturbance |
Moderate | 4–6 liquid stools/d Moderate rectal bleeding Some signs of systemic disturbance Mild disease that does not respond to treatment |
Severe | >6 liquid stools/d Severe rectal bleeding Any systemic disturbance (↑ pulse rate >90bpm, pyrexia >37.5°C, ↑ ESR, ↑ WCC, ↓ Hb <10g/dL) Signs of malnutrition (e.g. hypoalbuminaemia <35g/dL) Weight loss >10% |
| Severity | Symptoms |
|---|---|
Mild | <4 liquid stools/d Little/no rectal bleeding No signs of systemic disturbance |
Moderate | 4–6 liquid stools/d Moderate rectal bleeding Some signs of systemic disturbance Mild disease that does not respond to treatment |
Severe | >6 liquid stools/d Severe rectal bleeding Any systemic disturbance (↑ pulse rate >90bpm, pyrexia >37.5°C, ↑ ESR, ↑ WCC, ↓ Hb <10g/dL) Signs of malnutrition (e.g. hypoalbuminaemia <35g/dL) Weight loss >10% |
Active disease
Mesalazine 2–4g daily. Topical 5-ASA derivatives are a useful adjunct if troublesome rectal symptoms
Add steroids (prednisolone 40mg od po + rectal preparation) if prompt response is needed or mesalazine is unsuccessful. Review frequently and ↓ dose over 8wk. Rapid withdrawal ↑ risk of relapse
Azathioprine is added if the patient is having recurring attacks despite mesalazine maintenance frequent steroids (≥2 courses/y), disease relapses as dose of steroid is ↓, or relapse <6wk after stopping steroids. Requires regular supervision
Ciclosporin or infliximab (anti-TNF antibody)—consultant supervised; may be effective as acute therapy for severe, steroid-refractory disease
Admit acutely if Severe abdominal pain (especially if associated with tenderness)
Severe diarrhoea (>8x/d) ± bleeding
Dramatic weight loss
Fever >37.5°C, tachycardia >90bpm, or other signs of systemic disease
Maintenance treatment
Follow-up in 2° care is routine. Most patients require life-long therapy. Mainstays of treatment are 5-ASA derivatives (e.g. mesalazine 1–2g/d or balsalazide 3g/d). Use a rectal formulation (e.g mesalazine 1g/d PR) if disease is confined to the rectum or descending colon. Long-term treatment ↓ risk of colonic cancer by 75%. 10% are intolerant to 5-ASA derivatives—alternative is azathioprine (consultant supervision required). Treat proximal constipation with stool-bulking agents or laxatives. NSAIDs can precipitate relapse so avoid.
Surgery
Last resort—but should not be delayed if severe colitis and failing to respond to medical therapy. 20–30% of patients with pancolitis require colectomy—1:3 develop pouchitis (non-specific inflammation of the ileal reservoir) within 5y of surgery.
Prognosis
At any time 50% are asymptomatic, 30% have mild symptoms, and 20% moderate/severe symptoms. <5% are free from relapse after 10y. Relapses usually affect the same part of the colon.
Complications
See Table 13.17.
| UC | Crohn’s |
|---|---|
Toxic megacolon Colon distends and may perforate Colonic cancer Risk ↑ if disease >8y, onset in childhood/adolescence, age >45y, FH of colon cancer, extensive colitis, sclerosing cholangitis. Prevention: screening with colonoscopy Frequency depends on severity of the disease and duration of symptoms Sclerosing cholangitis Fibrosis and stricture of intra- and extrahepatic bile ducts. Presents with obstructive jaundice | Intra-abdominal abscess Intestinal stricture Common—may require surgery Toxic megacolon Rare (see UC) Bowel obstruction Fistula formation Perianal disease Malignancy Large and small bowel cancer—5% 10y after diagnosis Osteoporosis |
Psychological effects Chronic, life-long conditions which have major impact on work and domestic life. Self-help groups can be useful | |
| UC | Crohn’s |
|---|---|
Toxic megacolon Colon distends and may perforate Colonic cancer Risk ↑ if disease >8y, onset in childhood/adolescence, age >45y, FH of colon cancer, extensive colitis, sclerosing cholangitis. Prevention: screening with colonoscopy Frequency depends on severity of the disease and duration of symptoms Sclerosing cholangitis Fibrosis and stricture of intra- and extrahepatic bile ducts. Presents with obstructive jaundice | Intra-abdominal abscess Intestinal stricture Common—may require surgery Toxic megacolon Rare (see UC) Bowel obstruction Fistula formation Perianal disease Malignancy Large and small bowel cancer—5% 10y after diagnosis Osteoporosis |
Psychological effects Chronic, life-long conditions which have major impact on work and domestic life. Self-help groups can be useful | |
Management of Crohn’s disease
Active ileal and/or colonic disease
Treat with mesalazine 4g daily. Less effective than for UC
Add steroids (prednisolone 40mg od po or budesonide 9mg daily) if unresponsive to mesalazine. Review frequently, and ↓ dose over 8wk. Rapid withdrawal ↑ risk of relapse. Steroids are associated with ↑ risk of severe sepsis and mortality in Crohn’s disease, so alternatives to steroid therapy are increasingly sought and steroid maintenance for >3mo should always be avoided
Elemental or polymeric diets for 4–6wk can be a useful adjunct or alternative to steroid treatment—take consultant advice
Other treatments (consultant supervision) include metronidazole, azathioprine, anti-tumour necrosis factor (infliximab or adalimumab)
Surgery is an option if medical treatment has failed. 50% need surgery <10y after onset. Surgery is not curative and 50% will require a further operation at a later stage. After ileal resection check B12 levels annually
Admit acutely if Severe abdominal pain (especially if associated with tenderness)
Severe diarrhoea (>8x/d) ± bleeding
Dramatic weight loss
Bowel obstruction
Fever/other signs of systemic disease
For disease elsewhere, take specialist advice.
Maintenance treatment
Follow-up in 2° care is routine. Treatment is aimed at ↓ impact of the disease. The most effective measure is to stop smoking. Mesalazine has limited benefit. It is ineffective at doses <2g/d. Other agents used include azathioprine, methotrexate, and 2-monthly infliximab. All require consultant supervision. Treat diarrhoea symptomatically with codeine phosphate or loperamide unless it is due to active colonic disease. C-olestyramine (4g 1–3x/d) ↓ diarrhoea due to terminal ileal disease/resection. NSAIDs can precipitate relapse so avoid.
Prognosis
75% are back to work after the first year but 15% remain unable to work long term. Complications—see Table 13.17.
Further information
NICE Crohn’s disease (2012) www.nice.org.uk
British Society of Gastroenterology Guidelines for the management of inflammatory bowel disease in adults (2004) www.bsg.org.uk
Advice and support for patients
Crohn’s and Colitis UK 0845 130 2233 (info); 0845 130 3344 (support) www.crohnsandcolitis.org.uk
Irritable bowel syndrome
Irritable bowel syndrome (IBS) is a chronic (>6mo) relapsing and remitting condition of unknown cause, with symptoms including: Abdominal pain or discomfort; Bloating; and Change in bowel habit.
It is a diagnosed on symptoms with no confirmatory test and no cure. Extremely common. Lifetime prevalence ≥20%, although ∼50% never consult a GP. ♀ > ♂ (2.5:1). Symptoms can appear at any age.
Diagnosis of IBS
Abdominal pain or discomfort that is:
Relieved by defecation, or
Associated with altered bowel frequency or stool form
and ≥2 of the following:
Altered stool passage (straining, urgency, incomplete evacuation)
Abdominal bloating (♀ > ♂), distension, tension, or hardness
Symptoms made worse by eating
Passage of mucus
Other commonly associated symptoms include
Lethargy, nausea, backache, and bladder symptoms.
Differential diagnosis
Colonic carcinoma
Coeliac disease
Inflammatory bowel disease (Crohn’s disease or UC)
Pelvic inflammatory disease
Endometriosis
GI infection
Thyrotoxicosis
Investigation
A diagnosis of exclusion. How far to investigate is a clinical judgement weighing risks of investigation against possibility of serious disease. Judgement is based on age of the patient, family history, length of history, and symptom cluster.
Patients <40y Check FBC, ESR, and antibody testing to exclude coeliac disease (TTG/EMA)
Patients >40y Colonic cancer must be excluded for any patient with a persistent, unexplained change in bowel habit—particularly towards looser stools ( p. 399)
Other investigations to consider
Thyroid function tests if other symptoms/signs of thyroid disease
Stool samples to exclude GI infection if diarrhoea
Endocervical swabs for chlamydia
Colonoscopy to exclude inflammatory bowel disease
Laparoscopy to exclude endometriosis
Referral
To gastroenterology/colorectal surgery if:
Passing blood (except if from an anal fissure or haemorrhoids)—U
Abdominal, rectal, or pelvic mass—U
Unintentional/unexplained weight loss—U/S
Positive inflammatory markers and/or anaemia—U/S
>40y with new symptoms—U (if age >60y)/S/R
Change in symptoms, especially if >40y—U (if age >60y)/S/R
Atypical features (i.e. not those listed above)—U/S/R
Family history of bowel or ovarian cancer—R
Patient is unhappy to accept a diagnosis of IBS despite explanation—R
U = urgent; S = soon; R = routine.
Treatment
Reassure. Information leaflets are helpful. Encourage lifestyle measures, stress ↓, leisure time, and regular physical exercise.
Diet
Encourage patients to have regular meals and take time to eat. Avoid missing meals or leaving long gaps between eating.
Drink ≥8 cups of fluid/d, especially water. Restrict tea/coffee to 3 cups/d. ↓ intake of alcohol and fizzy drinks
↓ intake of high-fibre foods (e.g. wholemeal/high-fibre flour and breads, cereals high in bran, and whole grains such as brown rice)
↓ intake of ‘resistant starch’ found in processed or re-cooked foods
Limit fresh fruit to 3x 80g portions/d
For diarrhoea, avoid sorbitol, an artificial sweetener
For wind and bloating consider increasing intake of oats (e.g. oat-based breakfast cereal or porridge) and linseeds (≤1 tablespoon/d)
Up to 50% may be helped by exclusion of certain foods (especially patients with diarrhoea—predominant disease). Diaries may help identify foods that provoke symptoms. Common candidates are dairy products, citrus fruits, caffeine, alcohol, tomatoes, gluten, and eggs. Refer to dietician for exclusion diet
Specific measures
Probiotics Some evidence of effectiveness. Try a 4wk trial
Fibre/bulking agents Constipation-predominant IBS. Bran can make some patients worse. Ispaghula husk is better tolerated. Laxatives are an alternative but avoid use of lactulose
Antispasmodics (e.g. mebeverine, peppermint oil) All equally effective. If no response in a few days, switch to another—different agents suit different individuals. Once symptoms are controlled use prn
Antidiarrhoeal preparations (e.g. loperamide) Avoid codeine phosphate as may cause dependence. Use prn for patients with diarrhoea-predominant disease. Use pre-emptive doses to cover difficult situations (e.g. air travel)
Antidepressants There is evidence that low-dose amitriptyline, e.g. 10mg nocte, is effective. SSRIs are less effective unless the patient is overtly depressed. Withdraw if no response after 4–6wk
Psychotherapy and hypnosis Some effect in trials. Reserve for cases that have failed to respond to more conventional treatment
Failure to respond to treatment
Consider another diagnosis—review history and examination ± refer for further investigation.
Prognosis
>50% still have symptoms after 5y.
Further information
NICE Irritable bowel syndrome in adults: diagnosis and management of irritable bowel syndrome in primary care (2008) www.nice.org.uk
Advice and support for patients
The IBS Network 0872 300 4537 http://theibsnetwork.org
Jaundice and abnormal liver function
Jaundice
Yellow pigmentation of the tissues due to excessive bile pigment. Clinical jaundice appears when serum bilirubin >35micromol/L.
Causes
↑ production of bilirubin (pre-hepatic) Haemolytic anaemia, drug-induced haemolysis, malaria, Gilbert’s/Crigler–Najjar syndrome
Defective processing (hepatic) Hepatitis, cirrhosis
Blocked excretion (obstructive) Gallstones, pancreatic cancer, primary biliary cirrhosis, primary sclerosing cholangitis, cholangiocarcinoma, sepsis, enlarged porta hepatis (e.g. 2° to lymphoma)
History
Patients presenting with jaundice may have no other symptoms. General symptoms include tiredness, nausea, and pruritus. Ask about colour of the stools and urine (dark urine suggests conjugated hyperbilirubinaemia and hepatobiliary disease). Check alcohol consumption.
Examination
Mild jaundice is best seen by examining the sclerae in natural light. Look for signs of chronic liver disease and examine the abdomen for masses and hepatomegaly.
Investigations
Initially check FBC and liver function tests—see Table 13.18. Further investigations depend on the results.
| Type of jaundice | |||
|---|---|---|---|
| Pre-hepatic | Hepatic | Cholestatic | |
Tests | |||
Bilirubin | ↑↑ | ↑↑ | ↑↑ |
AST/ALT | Normal | ↑↑ | ↑ |
Alkaline phosphatase | Normal | ↑ | ↑↑↑ |
Hb | ↓ | Normal | Normal |
Jaundice | Mild, lemon yellow | May be marked jaundice | May be marked jaundice |
Other symptoms | Urine is not darkened | Tender, enlarged liver | Enlarged liver, itching skin, pale stools |
| Type of jaundice | |||
|---|---|---|---|
| Pre-hepatic | Hepatic | Cholestatic | |
Tests | |||
Bilirubin | ↑↑ | ↑↑ | ↑↑ |
AST/ALT | Normal | ↑↑ | ↑ |
Alkaline phosphatase | Normal | ↑ | ↑↑↑ |
Hb | ↓ | Normal | Normal |
Jaundice | Mild, lemon yellow | May be marked jaundice | May be marked jaundice |
Other symptoms | Urine is not darkened | Tender, enlarged liver | Enlarged liver, itching skin, pale stools |
A mixed picture is common and can be confusing.
Management
Treat the cause of the jaundice. Most patients (except those with Gilbert’s syndrome or self-limiting viral hepatitis) will require specialist referral. Refer patients with pre-hepatic and hepatic jaundice to a hepatologist or gastroenterologist; refer patients with post-hepatic (obstructive or cholestatic) jaundice to a general or hepatobiliary surgeon.
Neonatal jaundice
p. 868
Abnormal liver function
Raised AST/ALT/GGT in isolation
Liver enzymes can ↑ transiently as a result of viral infection, drugs, or alcohol. ALT tends to be more raised in viral and autoimmune hepatitis; AST tends to be more raised in patients with fatty liver; raised GGT is particularly associated with alcohol excess.
Check medication including herbal medicines
Stop alcohol
Repeat LFTs:
In 1mo if AST/ALT are <3x upper limit of normal
In 1wk if AST/ALT is ≥3x upper limit of normal
If still raised request hepatitis screen and USS, or refer to hepatology or gastroenterology depending on clinical state
If ALT is <2x upper limit of normal and hepatitis screen is negative:
If USS is normal, repeat LFTs every 3–6mo to see if abnormalities settle—may be due to drugs, alcohol, or early fatty liver disease
If USS shows fatty liver and consuming excess alcohol—advise abstinence from alcohol and recheck LFTs every 3–6mo
If USS shows fatty liver and alcohol consumption is within normal limits, advise weight loss and low-fat diet; treat metabolic syndrome, and recheck LFTs every 3–6mo
In all other cases, refer for specialist opinion
Raised bilirubin
Possible causes include:
Hepatitis/biliary obstruction—if ALT/AST are ↑, refer for liver USS and do a hepatitis screen or refer as for jaundice
Haemolysis—check FBC/reticulocyte count—refer to haematology if abnormal
Gilbert’s disease—likely if serum bilirubin is <40mmol/L and ALT/AST and RBC/reticulocytes are normal. Bilirubin levels ↑ after a fast
If isolated ↑ bilirubin >40mmol/L—probably still Gilbert’s syndrome, but refer
Raised alkaline phosphatase
Usually originates from liver or bone. Bone is more likely if serum Ca2+ and phosphate are raised and GGT is normal. ↑ may be associated with any liver disease but is particularly marked in patients with biliary obstruction and primary biliary cirrhosis.
Medications that cause raised AST/ALT
Most penicillins (especially co-amoxiclav) and minocycline
Antifungals
Statins
Anti-epileptics
NSAIDs
Some herbal medicines
Some recreational drugs
Statins and abnormal liver function
Statins cause a biochemical abnormality only but do not cause liver failure and are not contra-indicated in compensated liver disease. May improve fatty liver disease. Measure liver function tests pre-treatment and after 1–3mo. Thereafter measure each 6m for 1y. Discontinue if AST/ALT ↑ and stays at >3x normal.
Hepatitis screen
Check as appropriate:
Hepatitis A, B, and C serology
EBV serology
Liver autoantibodies
Iron studies and transferrin saturation to exclude haemochromatosis
α1-antitrypsin level
Serum copper and caerulo-plasmin levels (if <40y)
αFP
Fasting blood glucose and lipids
HbA1c
Hepatitis
Acute hepatitis
May be asymptomatic or present with fatigue, flu-like symptoms, fever, light stools, dark urine, and/or jaundice. Causes:
Viral hepatitis, e.g. HBV, HAV, EBV
Alcohol
Drugs (e.g. diclofenac, co-amoxiclav)
Toxins
Obstructive jaundice
Other infections—malaria, Q fever, leptospirosis, yellow fever
Management
Check LFTs, FBC, U&E, eGFR, hepatitis serology. Treat the cause. Admit if condition is poor or rapidly deteriorating; refer for investigation if sustained abnormalities in liver function with unclear cause ( p. 420). Complications: chronic hepatitis, acute liver failure.
Hepatitis A (HAV)
Common. Spread: faecal–oral route. Patients are infectious 2wk before feeling ill. Incubation is 2–7wk (average 4wk). High-risk groups: travellers to high-risk areas, institutional inhabitants and workers, IV drug abusers, patients with high-risk sexual practices. May be asymptomatic (especially young children) or present with fever, malaise, fatigue, anorexia, nausea/vomiting, abdominal pain, diarrhoea, tender hepatomegaly, pale stools, dark urine, and/or jaundice (70–80% adults).
Management
Check LFTs (hepatic jaundice— p. 420) and hepatitis serology—IgM antibodies signify recent infection, IgG remains detectable life-long. Management is supportive. Avoid alcohol until LFTs are normal. Most recover in <2mo. There is no carrier state and hepatitis A does not cause chronic liver disease. After infection immunity is life-long.
Prevention
Vaccination is indicated for travellers to high-risk areas, people with chronic liver disease, or those working in high-risk situations. Preparations available include monovalent vaccine (e.g. Havrix®), hepatitis A and B combined vaccine (Twinrix®) and hepatitis A and typhoid combined vaccine (e.g. Hepatyrix®). Passive immunization with human immunoglobulin gives protection for ≤3mo and is used for short-term travel or protecting household contacts of sufferers.
Hepatitis E (HEV)
Similar to HAV infection. Usually acquired in developing countries. Incubation is 2–9 wk (average 40d). Diagnosis is made with serology. Treatment is supportive. There is no chronic state. Mortality in pregnancy can be as high as 20%. No vaccine exists.
Hepatitis B (HBV)
p. 742
Hepatitis C (HCV)
p. 742
Chronic hepatitis
Hepatitis lasting >6mo. May be asymptomatic or present with fatigue; RUQ pain; jaundice; arthralgia; signs of chronic liver disease—gynaecomastia, testicular atrophy, clubbing, palmar erythema, leuconychia, peripheral oedema, spider naevi, portal hypertension, recurrent infection; and/or complications—acute liver failure, cirrhosis, hepatocellular carcinoma. Causes:
Viral hepatitis
Alcohol
Drugs (e.g. nitrofurantoin, methyldopa, isoniazid)
Chronic autoimmune hepatitis
Primary biliary cirrhosis
Wilson’s disease
Haemochromatosis
α1-antitrypsin deficiency
Sarcoidosis
Management
Check LFTs; FBC; U&E; eGFR; and hepatitis screen ( p. 421). Refer for specialist care.
Chronic autoimmune hepatitis
Typically young women. Associated with personal/family history of autoimmune disease (e.g. RA, vitiligo). Diagnosis is confirmed with liver biopsy and autoimmune markers. Specialist management is with steroids ± immunosuppressants.
Primary biliary cirrhosis
Slow progressive cholangiohepatitis eventually resulting in cirrhosis. ♀:♂ ≈9:1. Peak age at presentation: 45y. Cause: probably autoimmune. Associations:
Thyroid disease
Sjögren’s syndrome
CREST syndrome
Coeliac disease
Hepatic and extrahepatic malignancy
Pancreatic hyposecretion
Presentation
50% are asymptomatic at presentation. Symptoms/signs:
Fatigue
Pruritus
Arthralgia
Osteoporosis/osteomalacia
Hirsutism
Obstructive jaundice (late)
Symptoms/signs of cirrhosis or liver failure
Investigation and management
Blood: LFTs (↑ alk phos, ↑ ALT, ↑ GGT). Liver biopsy is diagnostic. Refer for specialist care. If asymptomatic, 1:3 remain symptom-free—the rest develop symptoms in 2–4y. Median survival is 7–10y. Liver transplant is an option. Prognosis following transplant is good but recurrence may occur in the transplanted liver.
Primary haemochromatosis
Autosomal recessive condition of excess gut absorption of iron → iron deposition and damage to heart, liver, pancreas, joints, and pituitary. ∼1:400 people are homozygous for the condition but expression is highly variable. ♂ > ♀ (women present ∼10y later). Often an incidental finding, or found by screening relatives of affected individuals (genetic testing or serum ferritin). Symptoms/signs:
Tiredness
Arthralgia/arthritis
Skin pigmentation
Hepatomegaly ± signs of cirrhosis
DM
Impotence/ testicular atrophy
Cardiomyopathy
Investigation and management
Blood: ↑ ferritin; ↑ iron; transferrin saturation >70%; total iron binding capacity ↓. Refer. Liver biopsy is diagnostic. Venesection returns life expectancy to normal.
Secondary haemochromatosis
Iron overload from frequent transfusions, e.g. for haemolysis. Specialist management with chelation therapy to ↑ iron excretion is required.
α1 - antitrypsin deficiency
p. 425
Wilson’s disease (hepatolenticular degeneration)
Rare, autosomal recessive disorder. Defective biliary copper excretion → accumulation of copper in the liver, brain, kidney, and cornea. Treatment is with penicillamine. Liver transplantation is the only treatment if presentation is with acute liver failure. S.A.K. Wilson (1878–1937)—British neurologist.
Information and support for patients
British Liver Trust 0800 652 7330 www.britishlivertrust.org.uk
Primary Biliary Cirrhosis Organization www.pbcers.org
Wilson’s Disease Association www.wilsonsdisease.org
Liver failure and portal hypertension
‘Jaundice is the disease that your friends diagnose’
Aphorisms, Sir William Osler (1849–1920)
Cirrhosis
The liver is replaced by fibrotic tissue and regenerating nodules of hepatocytes.
Causes
Unknown (30%)
Alcohol (25%)
Viral hepatitis
Primary biliary cirrhosis
Haemochromatosis
Wilson’s disease
Budd–Chiari syndrome
Chronic active hepatitis
α1-antitrypsin deficiency
Presentation
Variable. May be an incidental finding. Symptoms/signs:
Hepatomegaly (although liver becomes small and hard in late stages)
Spider naevi
Dupuytren’s contracture
Palmar erythema
Gynaecomastia
Testicular atrophy
Clubbing
Xanthelasma/xanthomata
Portal hypertension
Splenomegaly
Presents with sudden onset of severe illness.
Jaundice
Hypoglycaemia
Hepatic encephalopathy—ranges from mild confusion and irritability, through drowsiness and increasing confusion, to coma
Haemorrhage—due to deranged clotting factors
Ascites—hepatosplenomegaly and ascites are not usually prominent
Infection
Nausea ± vomiting
↑ BP
Foetor hepaticus (sweet smell on the breath)
In previously healthy patients:
Viral hepatitis
Weil’s disease
Paracetamol overdose
Halothane
Idiosyncratic drug reactions
Fungal/plant toxins
Malignant infiltration
Chemical exposure (e.g. carbon tetrachloride)
Heatstroke
Budd–Chiari syndrome
Pregnancy
Wilson’s disease
Reye’s syndrome
In patients with chronic liver disease:
Infection
GI bleeding
Sedation
Diuretics and/or electrolyte imbalance
Alcohol binges
Constipation
Admit as emergency to a hepatologist/gastroenterologist unless an expected terminal event. Prognosis is poor (<60% survive).
Occur when the liver can no longer compensate for the damage to it—jaundice, hepatic encephalopathy, leuconychia, and oedema (due to hypoalbuminaemia).
Blood—FBC, LFTs (may be normal until late stages), GGT, U&E, Cr, eGFR, hepatitis screen ( p. 421)
Liver USS
Refer to gastroenterology/hepatology for expert advice
Treat the cause where possible
Avoid alcohol and refer to dietician for advice on nutrition
Pruritus 2° to jaundice may respond to cholestyramine
Give flu and pneumococcal vaccination
Portal hypertension (± bleeding oesophageal varices)
Encephalopathy
Hepatocellular carcinoma
Ascites (bacterial peritonitis complicates 1:4 cases—consider prophylaxis with ciprofloxacin)
Renal failure
Very variable—half survive 5y.
α1-antitrypsin deficiency
Autosomal recessive disorder. Defective α1-antitrypsin production → lung, and more rarely, liver damage. Treatment with IV α1-antitrypsin ↓ progression of COPD. Paracetamol may protect the liver. Encourage use for minor illness. Liver transplantation may eventually be needed.
Portal hypertension
Portal venous pressure is raised due to obstruction of the portal system before, within, or after the liver. In western countries the most common cause is cirrhosis.
Elevated portal venous pressure → collaterals between the portal and systemic circulation (including oesophageal varices). Usually presents with haematemesis and/or melaena from bleeding varices
Ascites develops if there is coexistent liver failure with hypoproteinaemia and hyperaldosteronism
Splenomegaly is common → thrombocytopaenia and leucopenia
Signs: splenomegaly (80–90%), ascites, dilated veins around the umbilicus (rare); purpura; signs of chronic liver disease—jaundice, clubbing, spider naevi, palmar erythema, gynaecomastia, testicular atrophy; encephalopathy
Refer to gastroenterology/hepatology. Specialist management is essential. If GI bleeding, refer as a ‘blue light’ emergency
Information and support for patients
British Liver Trust 0800 652 7330 www.britishlivertrust.org.uk
Alpha-1 Support for people with α1-antitrypsin deficiency www.alpha1.org.uk
Other liver disease
Fatty liver
Reversible condition affecting up to 1:4 adults in the UK. Large vacuoles of triglyceride accumulate in liver cells.
Presentation
Usually asymptomatic. >50% present as a result of investigation for abnormal LFTs ( p. 420). Characteristic ‘bright’ appearance on liver USS
Less frequently presents with a smoothly enlarged liver or symptoms—nausea, vomiting, abdominal pain, fat embolus (may be fatal)
Broadly divides into 2 forms:
Alcohol associated fatty liver disease
Defined as fatty liver disease with daily ethanol consumption >20g (♀) or 30g (♂)
Typically serum AST and ALT are ↑, but serum AST > serum ALT
GGT may be ↑, and alk. phos may also be ↑ but usually <2x upper limit of normal
Predisposes to alcoholic hepatitis and cirrhosis (irreversible)
Abstinence from alcohol results in resolution
Non-alcoholic fatty liver disease (NAFLD)
Associated with obesity (present in 35% of obese patients), insulin resistance, and metabolic syndrome ( p. 343)
Typically, serum AST and ALT are ↑, but serum ALT > serum AST
GGT may be ↑ and ALP may also be ↑ but usually <2x upper limit of normal
More severe disease results in non-alcoholic steatohepatitis (NASH) and is thought to be one of the major causes of cryptogenic cirrhosis—liver failure is uncommon
A high proportion of patients develop DM long-term
Treatment is with weight ↓, metformin, and/or thiazolidinediones
Treatment with statins is ineffective
Other rarer causes of fatty liver disease
Drugs, e.g. amiodarone, tamoxifen, valproate
Pregnancy
Malnutrition
Inflammatory bowel disease
Gilbert’s syndrome
Inherited metabolic disorder causing unconjugated hyperbilirubinaemia. Prevalence: ∼1–2%. Onset is shortly after birth—but the condition may go unnoticed for years. Jaundice occurs during intercurrent illness. ↑ bilirubin on fasting can confirm the diagnosis. Liver biopsy is normal. No treatment is required and prognosis is excellent.
N.A. Gilbert (1858–1927)—French physician
Benign tumours
Hepatomegaly ± RUQ pain or an incidental finding.
Common types
Hepatic adenoma, fibroma, leiomyoma, lipoma, haemangioma, focal nodular hyperplasia (e.g. with cirrhosis).
Management
Refer to gastroenterology to exclude malignancy and confirm diagnosis. Urgency depends on clinical picture and findings on USS.
Hepatocellular cancer (HCC)
Rare in the UK (100 new cases and 100 deaths/y). Much more common in areas of the world where hepatitis B is endemic (e.g. China, India). Usually arises from regenerating nodules in a cirrhotic liver. Peak age: 60–70y. Intra- and extrahepatic spread is common and occurs early.
Presentation
In a patient with known cirrhosis:
Fatigue
Fever
Anorexia and/or weight ↓
Ascites
Rapid deterioration in liver function
Haemorrhage into the peritoneal cavity (often fatal)
Budd–Chiari syndrome (occlusion of the hepatic vein resulting in jaundice, epigastric pain, and shock)
Examination—may reveal an abdominal mass, hepatomegaly ± an arterial bruit over the tumour
Management
If suspected check α FP and refer for urgent assessment. αFP >500ng/mL in a patient with known cirrhosis is almost certainly diagnostic. The most important prognostic factors are the number and size of the liver lesions and the presence of vascular involvement. 95% of patients with cirrhosis have disease too extensive for curative surgery, or their severely compromised liver function makes radical surgery inappropriate. 50% of patients without cirrhosis have resectable tumours. Surgery may be combined with liver transplantation. Inoperable tumours may be treated with hepatic artery ligation or embolization. Tumours respond poorly to chemo- or radiotherapy.
Overall prognosis
Patients with cirrhosis—median survival 3mo; patients without cirrhosis—median survival 1y.
Cholangiocarcinoma
Rare adenocarcinoma of the biliary tract. May be associated with UC. Typically presents in patients >60y with jaundice, RUQ pain and weight loss. The only effective treatment is surgery, which is only possible in ∼10–20% of patients. Selected fit patients with unresectable disease may be offered palliative chemotherapy or enrolment in a clinical trial. Median survival 4–6mo.
Secondary tumours
The most common type of liver tumours—usually signalling late disease. Presentation: hard, enlarged, knobbly liver ± RUQ pain ± jaundice (late). If found and no history of malignancy refer to oncology/general surgery for urgent referral to find the primary.
1° tumours commonly metastasizing to the liver
Lung, breast, large bowel, stomach, uterus, pancreas, carcinoid, lymphoma, leukaemia.
Advice and support for patients
Cancer Research UK 0808 800 4040 www.cancerhelp.org.uk
Macmillan Cancer Support 0808 808 0000 www.macmillan.org.uk
British Liver Trust 0800 652 7330 www.britishlivertrust.org.uk
Gallbladder disease
Gallstones
Gallstones are increasingly common. 9% of 60y olds have them and prevalence ↑ with age.
Other risk factors
Gender (♀ > ♂)
Body weight—prevalence ↑ with weight; also associated with rapid weight ↓
Race—in the USA, Native American > Hispanic > white > black
Affluency
Pregnancy (and possibly HRT but not COC pill)
Alcohol is protective
Diet—vegetarian diet is protective
Associated conditions
Haemolysis
DM
Hypertriglyceridaemia
Cirrhosis
Crohn’s disease
Partial gastrectomy
Drugs which cause gallstones
Clofibrate (and other fibric acid derivatives); octreotide (somatostatin analogue).
Presentation
Gallstones are blamed for many digestive symptoms—they are probably innocent in most cases. 70% of stones in the gall bladder do not cause symptoms. Common presentations—see Table 13.19.
| Presentation | Management | |
|---|---|---|
Biliary colic | Clear-cut attacks of severe upper abdominal pain which may radiate → back/shoulder tip, lasting ≥30min and causing restlessness ± jaundice ± nausea or vomiting Examination: tenderness ± guarding in the right upper quadrant (↑ on deep inspiration—Murphy’s sign) | Treat acute attacks with pethidine (50mg IM/po) or naproxen (500mg po) + prochlorperazine 12.5mg IM or domperidone 10mg po/PR for nausea Admit if: uncertain of diagnosis, inadequate social support, persistent symptoms despite analgesia, suspicion of complications, and/or concomitant medical problems (e.g. dehydration, pregnant, DM, Addison’s) Investigate: for gallstones with abdominal USS to prove diagnosis when the episode has settled Differential diagnosis: any cause of acute abdomen Treat: gallstones to prevent recurrence |
Acute cholecystitis/cholangitis | Pain and tenderness in the right upper quadrant/epigastrium ± vomiting Examination: tenderness ± guarding in the right upper quadrant ± fever ± jaundice | Treatment: broad-spectrum antibiotic (e.g. ciprofloxacin) and analgesia as for biliary colic Admit if: generalized peritonism, diagnosis uncertain, very toxic, concomitant medical problems (e.g. dehydration, DM, Addison’s, pregnancy), inadequate social support, or not responding to medication Empyema occurs when the obstructed gall bladder fills with pus. Presents with persistent swinging fever and pain. Usually requires cholecystectomy ± surgical drainage Investigate and follow up to prevent recurrence as for biliary colic |
Pancreatitis |
|
|
Gallstone ileus | Occurs usually after an attack of cholecystitis. A stone perforates from the gall bladder into the duodenum and impacts in the terminal ileum causing bowel obstruction |
|
Chronic cholecystitis | Vague intermittent abdominal discomfort, nausea, flatulence, and intolerance of fats | Investigate for gallstones with abdominal USS to prove the diagnosis Differential diagnosis: reflux, IBS, upper GI tumour, PU Refer for treatment of gallstones |
Jaundice | Obstructive jaundice— | Refer for same day or urgent specialist surgical assessment (depending on clinical state) |
| Presentation | Management | |
|---|---|---|
Biliary colic | Clear-cut attacks of severe upper abdominal pain which may radiate → back/shoulder tip, lasting ≥30min and causing restlessness ± jaundice ± nausea or vomiting Examination: tenderness ± guarding in the right upper quadrant (↑ on deep inspiration—Murphy’s sign) | Treat acute attacks with pethidine (50mg IM/po) or naproxen (500mg po) + prochlorperazine 12.5mg IM or domperidone 10mg po/PR for nausea Admit if: uncertain of diagnosis, inadequate social support, persistent symptoms despite analgesia, suspicion of complications, and/or concomitant medical problems (e.g. dehydration, pregnant, DM, Addison’s) Investigate: for gallstones with abdominal USS to prove diagnosis when the episode has settled Differential diagnosis: any cause of acute abdomen Treat: gallstones to prevent recurrence |
Acute cholecystitis/cholangitis | Pain and tenderness in the right upper quadrant/epigastrium ± vomiting Examination: tenderness ± guarding in the right upper quadrant ± fever ± jaundice | Treatment: broad-spectrum antibiotic (e.g. ciprofloxacin) and analgesia as for biliary colic Admit if: generalized peritonism, diagnosis uncertain, very toxic, concomitant medical problems (e.g. dehydration, DM, Addison’s, pregnancy), inadequate social support, or not responding to medication Empyema occurs when the obstructed gall bladder fills with pus. Presents with persistent swinging fever and pain. Usually requires cholecystectomy ± surgical drainage Investigate and follow up to prevent recurrence as for biliary colic |
Pancreatitis |
|
|
Gallstone ileus | Occurs usually after an attack of cholecystitis. A stone perforates from the gall bladder into the duodenum and impacts in the terminal ileum causing bowel obstruction |
|
Chronic cholecystitis | Vague intermittent abdominal discomfort, nausea, flatulence, and intolerance of fats | Investigate for gallstones with abdominal USS to prove the diagnosis Differential diagnosis: reflux, IBS, upper GI tumour, PU Refer for treatment of gallstones |
Jaundice | Obstructive jaundice— | Refer for same day or urgent specialist surgical assessment (depending on clinical state) |
Management of gallstones
Advise the patient to stick to a low-fat diet
Refer for surgical review ± further evaluation (e.g. ERCP—endoscopic retrograde cholangiopancreatography)
Gallstones can be removed by cholecystectomy (laparoscopic or open) or ERCP or may be dissolved with ursodeoxycholic acid (stones <5mm diameter—40% recur in <5y) or shattered with lithotripsy (1:3 develop biliary colic afterwards)
Persistent digestive symptoms after surgery are common (50% after cholecystectomy) and difficult to treat
Gallbladder cancer
Rare. ♀ > ♂. Gallstones are a predisposing factor. Typically presents in patients >40y with right upper quadrant pain, anorexia, weight ↓, and jaundice. Surgical resection offers the only hope of cure but disease is usually advanced at presentation. Selected fit patients with unresectable disease may be offered palliative chemotherapy or enrolment in a clinical trial. Prognosis is poor.
Information and support for patients
British Liver Trust 0800 652 7330 www.britishlivertrust.org.uk
Pancreatitis
Acute pancreatitis
Premature activation of pancreatic enzymes results in autodigestion and tissue damage. Most episodes are mild and self-limiting but 1:5 patients have a severe attack. Overall mortality ∼5–10%. May be recurrent.
Causes
In 10% patients no cause is identified.
Common causes (80%): gallstones, alcohol
Rarer causes:
Drugs (e.g. azathioprine)
Trauma
Pancreatic tumours
Post-ERCP
Viral infection (mumps, HIV, Coxsackie B)
Mycoplasma infection
Hypercalcaemia
Hyperlipidaemia
Pancreas divisum (normal variant in 7–8% of the white population)
Familial pancreatitis
Vasculitis
Ischaemia or embolism
Pregnancy
End-stage renal failure
Presentation
Poorly localized, continuous, boring epigastric pain which ↑ over ∼1h—often worse lying down ± radiation to the back (50%)
Nausea ± vomiting
Examination
General Tachycardia, fever, shock, jaundice
Abdominal Localized epigastric tenderness or generalized abdominal tenderness; abdominal distension ±↓ bowel sounds; evidence of retroperitoneal haemorrhage (periumbilical and flank bruising—rare)
Management
Admit as an acute surgical emergency. Prior to transfer, give analgesia with pethidine (morphine may induce spasm of the sphincter of Oddi).
Complications
Delayed complications may present in general practice—suspect if persistent pain or failure to regain weight or appetite. Complications include:
Pancreatic necrosis
Pseudocyst—localized collection of pancreatic secretions
Fistula/abscess formation
Bleeding or thrombosis
Prevention of further attacks
Avoid factors that may have caused pancreatitis, e.g. alcohol, drugs
Advise patients to follow a low-fat diet
Treat reversible causes, e.g. hyperlipidaemia, gallstones
Chronic pancreatitis
Chronic inflammation of the pancreas results in gradual destruction and fibrosis of the gland ± loss of pancreatic function → malabsorption and DM.
Cause
Alcohol is responsible for most cases. More rarely: familial; CF; haemochromatosis; pancreatic duct obstruction (gallstones/pancreatic cancer); hyperparathyroidism.
Presentation
Constant or episodic epigastric pain, radiating to the back and relieved by sitting forwards
Vomiting
Weakness
Jaundice
Steatorrhoea
Weight ↓
DM
Chronic poor health
Management
Refer to gastroenterology. Treatment:
Diet Low-fat, high-protein, high-calorie diet with fat-soluble vitamin supplements. Refer to dietician
Pancreatic enzyme supplementation (e.g. Creon® capsules pre-meals) May improve diarrhoea
Alcohol abstinence
Pain control Provide analgesia—beware of opioid abuse. Consider referral for coeliac plexus block
Surgery Pancreatectomy or pancreaticojejunostomy for pancreatic duct stricture, obstructive jaundice, unremitting pain, or weight loss
Diabetes management
Pancreatic insufficiency
Global ↓ function of the pancreas. Causes:
Child Cystic fibrosis
Adult Chronic pancreatitis, pancreatic tumour, pancreatectomy, total gastrectomy
Presentation
Malabsorption (frequent loose, odorous stools ± abdominal pain), weight loss or failure to thrive, DM.
Management
Take specialist advice. Treat the underlying cause. Treat associated DM. Suppplement digestive enzymes (e.g. with Creon®).
Pancreatic tumours
Pancreatic cancer accounts for 3% of all malignancies, causing 7,800 deaths/y in the UK. 80% of cases occur in patients >60y. ♂ > ♀ (3:2).
Risk factors
Smoking—causes 25–30% of pancreatic cancers in the UK. Risk returns to non-smoker levels 10–20y after cessation
Chronic pancreatitis—usually related to excess alcohol
Type II (non-insulin-dependent) DM—relative risk ≈ 1.8
Obesity—↑ risk by 19%
Genetic—5% pancreatic cancers are hereditary; characterized by presentation aged <30y. and +ve FH
Occupation—cancer is ↑ among nickel workers and workers exposed to insecticides, radiation, lead, iron, or chromium
Tumour characteristics
The majority of pancreatic tumours develop in the exocrine part of the gland. 95% of tumours are adenocarcinomas. Rarely tumours develop from the endocrine part—these have better prognosis
75% arise in the head of the pancreas, 15% from the body, and 10% from the tail. Tumours arising in the head of the pancreas tend to present earlier and are easier to remove
Spread to local LNs occurs early and metastatic spread to the peritoneum, liver, and lungs is frequently found at presentation
Presentation
Non-specific with:
Gradual deterioration in health or fatigue
Anorexia or weight ↓
Pain—epigastric ± radiation → back—may be relieved by sitting forward
Diarrhoea/steatorrhoea due to malabsorption
Early satiety, dyspepsia, or nausea/vomiting (gastric outlet obstruction)
Obstructive jaundice
Pancreatitis
New DM
Spontaneous venous thrombosis
Examination
Check for weight ↓, epigastric or left upper quadrant mass, hepatomegaly, jaundice. If jaundice is present the gall bladder may be palpable as a small, rounded mass beneath the liver.
Management
Refer for urgent surgical assessment. Diagnosis is confirmed using a combination of USS, CT, MRI, and/or ERCP. The only potentially curative treatment for pancreatic cancer is surgery but <15% of patients are suitable for surgery at presentation. The operation of choice is a Whipple’s procedure (pancreaticoduodenectomy). Surgery is associated with significant morbidity; mortality 5–15%.
Prognosis
Those undergoing surgical resection have 5y survival of 7–25% (median survival 11–20mo) but those that survive 5y are likely to survive long-term. Median survival for those with irresectable locally advanced disease is 6–11mo, and 2–6mo if metastatic disease.
Palliative treatment
Patients with locally advanced/metastatic disease may benefit from surgical bypass of common bile duct and/or duodenal obstruction. An alternative is a biliary stent. Chemotherapy may give some survival benefit. Refer for palliative care support early.
Endocrine tumours
In all cases specialist management is required.
Glucagonoma
Islet cell tumour of the pancreas. Most are malignant and 90% have liver or LN metastases at presentation. 5–20% of tumours occur as part of multiple endocrine neoplasia (MEN I) syndrome. Presents with:
Attacks of hyperglycaemia (DM in >50%)
Skin changes—sore mouth, necrolytic migratory erythema (70%—rash which starts as an erythematous rash then blisters before crusting)
Weight ↓/cachexia (60%)
Tendency to venous thrombosis (11%)
Anaemia
Diarrhoea
Depression/psychosis
Insulinoma
Tumour of the APUD cells of the Islets of Langerhans. >90% are benign. 7–8% are associated with MEN I syndrome. Presents with episodes of hypoglycaemia, especially when exercising or fasting. ↑ appetite and frequent food intake to avoid hypoglycaemia often results in substantial weight gain.
Somatostatinoma
Uncommon islet cell tumour. Most are large tumours (>5cm) in the head/body of the pancreas. Presents with gallstones, steatorrhoea, and DM.
Extrapancreatic somatostatinomas can present in association with neurofibromatosis type I and phaeochromocytoma.
Verner–Morrison syndrome
An intestinal vasointestinal peptide (VIP)-producing tumour results in profuse watery diarrhoea → dehydration, metabolic acidosis, and ↓ K+. Also associated with insulin resistance and impaired glucose tolerance. VIPomas account for <10% islet cell tumours. 60% are malignant. J.V. Verner, (b.1927)—US physician; A.B. Morrison, (b.1922)—US pathologist.
Advice and support for patients
Cancer Research UK 0808 800 4040 www.cancerhelp.org.uk
Macmillan Cancer Support 0808 808 0000 www.macmillan.org.uk
